ClinVar Genomic variation as it relates to human health
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000277.3(PAH):c.734T>C (p.Val245Ala)
Variation ID: 632 Accession: VCV000000632.36
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 12q23.2 12: 102852923 (GRCh38) [ NCBI UCSC ] 12: 103246701 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 19, 2014 Feb 28, 2024 Sep 28, 2018 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000277.3:c.734T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000268.1:p.Val245Ala missense NM_000277.2:c.734T>C NM_001354304.2:c.734T>C NP_001341233.1:p.Val245Ala missense NC_000012.12:g.102852923A>G NC_000012.11:g.103246701A>G NG_008690.2:g.110488T>C P00439:p.Val245Ala - Protein change
- V245A
- Other names
- p.V245A:GTG>GCG
- NM_000277.2(PAH):c.734T>C
- Canonical SPDI
- NC_000012.12:102852922:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00040 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 0.00040
1000 Genomes Project 30x 0.00047
The Genome Aggregation Database (gnomAD) 0.00049
Trans-Omics for Precision Medicine (TOPMed) 0.00049
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PAH | - | - |
GRCh38 GRCh37 |
1485 | 1604 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (3) |
criteria provided, single submitter
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Apr 13, 2017 | RCV000000664.12 | |
Pathogenic (12) |
reviewed by expert panel
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Sep 28, 2018 | RCV000346938.41 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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May 16, 2022 | RCV000089065.20 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 21, 2021 | RCV002512615.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 28, 2018)
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reviewed by expert panel
Method: curation
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Phenylketonuria
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen PAH Variant Curation Expert Panel
Accession: SCV000852138.4
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
Comment:
PAH-specific ACMG/AMP criteria applied: PM5: V245L Pathogenic; PP4_Moderate: Seen in at least 7 MHP patients. Exclusion of a defect in tetrahydrobiopterin metabolism. Upgraded per ClinGen … (more)
PAH-specific ACMG/AMP criteria applied: PM5: V245L Pathogenic; PP4_Moderate: Seen in at least 7 MHP patients. Exclusion of a defect in tetrahydrobiopterin metabolism. Upgraded per ClinGen Metabolic Workgroup. (PMID:7981714; PMID:9298832; PMID:9634518); PM3_VeryStrong: V245A detected with IVS-12nt1, R252W, L194P (both P/LP), R408W (Path). Upgraded per ClinGen SVI Workgroup (PMID:7981714; PMID:9298832; PMID:8088845). In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM5, PP4_Moderate, PM3_VeryStrong). (less)
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Pathogenic
(Apr 13, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hyperphenylalaninemia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696463.1
First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
Comment:
Variant summary: The PAH c.734T>C (p.Val245Ala) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this variant. … (more)
Variant summary: The PAH c.734T>C (p.Val245Ala) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this variant. This variant was found in 86/121256 control chromosomes at a frequency of 0.0007092, which does not exceed the estimated maximal expected allele frequency of a pathogenic PAH variant (0.0079057). This variant has been reported in many HPA alleles worldwide and functional studies showed variant with ~ 50% residue activity, which explains the mild phenotype of patients with this variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000915571.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The PAHc.734T>C (p.Val245Ala) missense variant has been reported in four studies in which it is identified in a compound heterozygous state in a total of … (more)
The PAHc.734T>C (p.Val245Ala) missense variant has been reported in four studies in which it is identified in a compound heterozygous state in a total of eight individuals with phenylalanine hydroxylase deficiency (Gulberg et al. 1994; Zekanowski et al 1997; Kasnauskiene et al. 2003; Trunzo et al. 2014). The p.Val245Ala variant was absent from 220 control chromosomes and is reported at a frequency of 0.00114 in the European (non-Finnish) population of the Exome Aggregation Consortium. Danecka et al. (2015) provided functional assessment of a variety of PAH variants co-expressed in COS-7 cells, and demonstrated reduced activity of the p.Val245Ala variant as compared to wild type. Based on the collective evidence, the p.Val245Ala variant is classified as pathogenic for phenylalanine hydroxylase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Dec 17, 2019)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193787.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_000277.1(PAH):c.734T>C(V245A) is classified as pathogenic in the context of phenylalanine hydroxylase deficiency and can be associated with variant or non-PKU HPA. Sources cited for classification … (more)
NM_000277.1(PAH):c.734T>C(V245A) is classified as pathogenic in the context of phenylalanine hydroxylase deficiency and can be associated with variant or non-PKU HPA. Sources cited for classification include the following: PMID 10394930, 16198137, 24350308, 11161839, 16198137, 9781015, 12655553, 23764561, 8088845 and 12501224. Classification of NM_000277.1(PAH):c.734T>C(V245A) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Jul 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
(Autosomal recessive inheritance)
Affected status: no
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002768552.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease … (more)
Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from valine to alanine (exon 7). (N) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD v2 <0.01 for a recessive condition (130 heterozygotes, 0 homozygotes). (P) 0309 - An alternative amino acid change at the same position has been observed in gnomAD v2 (6 heterozygotes, 0 homozygotes). (N) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (P) 0600 - Variant is located in an annotated domain or motif (biopterin H domain; PDB). (N) 0703 - Comparable variants have moderate previous evidence for pathogenicity. Alternative changes (p.Val245Leu, p.Val245Glu) have been reported as pathogenic in patients with phenylketonuria (PKU) (ClinVar). (P) 0801 - Strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported many times in patients with mild PKU (ClinVar, PMID: 26666653). (P) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign (less)
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Pathogenic
(Apr 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002016476.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000833177.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 245 of the PAH protein (p.Val245Ala). … (more)
This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 245 of the PAH protein (p.Val245Ala). This variant is present in population databases (rs76212747, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with hyperphenylalaninaemia (PMID: 8088845, 24296287, 25596310, 26803807). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 632). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PAH protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects PAH function (PMID: 26803807). This variant disrupts the p.Val245 amino acid residue in PAH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11161839, 15159646). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 08, 2014)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000744096.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Jul 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000331506.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 3
Sex: mixed
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Pathogenic
(Jul 05, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888352.2
First in ClinVar: Dec 15, 2018 Last updated: Jan 01, 2022 |
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Pathogenic
(Mar 09, 2022)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893945.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 21, 2021)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003712587.1
First in ClinVar: Feb 07, 2023 Last updated: Feb 07, 2023 |
Comment:
The c.734T>C (p.V245A) alteration is located in exon 7 (coding exon 7) of the PAH gene. This alteration results from a T to C substitution … (more)
The c.734T>C (p.V245A) alteration is located in exon 7 (coding exon 7) of the PAH gene. This alteration results from a T to C substitution at nucleotide position 734, causing the valine (V) at amino acid position 245 to be replaced by an alanine (A). Based on data from the Genome Aggregation Database (gnomAD) database, the PAH c.734T>C alteration was observed in 0.05% (130/282610) of total alleles studied, with a frequency of 0.09% (112/128966) in the European (non-Finnish) subpopulation. This common mutation and has been detected in combination with a second variant in many individuals affected with nonphenylketonuria hyperphenylalaninemia and mild hyperphenylalaninemia (Guldberg, 1994; Aldámiz-Echevarría, 2016; Tolve, 2018). This amino acid position is completely conserved on sequence alignment. In vitro functional studies have shown that this alteration impairs PAH (phenylalanine hydroxylase) activity (Shen, 2016; Danecka, 2015). The p.V245A alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(May 16, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000239069.10
First in ClinVar: Jul 18, 2015 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate V245A is associated with residual phenylalanine hydroxylase enzyme activity (Zurfluh et al., 2008; Heintz et al., 2013; Danecka et al., 2015); … (more)
Published functional studies demonstrate V245A is associated with residual phenylalanine hydroxylase enzyme activity (Zurfluh et al., 2008; Heintz et al., 2013; Danecka et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26666653, 24939588, 8739972, 10980574, 23559577, 25596310, 8088845, 17935162, 16601866, 25087612, 24055113, 24296287, 25637381, 12640344, 7981714, 9298832, 9781015, 8533759, 26803807, 26990548, 31980526, 33326653, 31589614, 32668217, 32778825) (less)
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Pathogenic
(Oct 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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Phenylketonuria
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004201340.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Uncertain significance
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Hyperphenylalaninaemia
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190456.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014 |
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Likely pathogenic
(Mar 16, 2016)
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no assertion criteria provided
Method: research
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Phenylketonuria
Affected status: unknown
Allele origin:
germline
|
Division of Human Genetics, Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000536874.1 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
|
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Likely pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Phenylketonuria
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733124.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(May 15, 1994)
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no assertion criteria provided
Method: literature only
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HYPERPHENYLALANINEMIA, NON-PKU
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000020814.2
First in ClinVar: Apr 04, 2013 Last updated: Apr 18, 2015 |
Comment on evidence:
In a study of 30 Danish children with non-phenylketonuria hyperphenylalaninemia (see PKU, 261600), Guldberg et al. (1994) identified a T-to-C change in exon 7 of … (more)
In a study of 30 Danish children with non-phenylketonuria hyperphenylalaninemia (see PKU, 261600), Guldberg et al. (1994) identified a T-to-C change in exon 7 of the PAH gene, resulting in a val-to-ala substitution at position 245 (V245A). (less)
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Phenylketonuria
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001453111.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Likely pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001964069.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
not provided
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DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
Accession: SCV000119671.1
First in ClinVar: Mar 19, 2014 Last updated: Mar 19, 2014 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test. | Tolve M | Methods and protocols | 2018 | PMID: 31164572 |
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. | Aldámiz-Echevarría L | Journal of human genetics | 2016 | PMID: 27121329 |
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. | Shen N | Molecular genetics and metabolism | 2016 | PMID: 26803807 |
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. | Jeannesson-Thivisol E | Orphanet journal of rare diseases | 2015 | PMID: 26666653 |
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. | Danecka MK | Journal of medical genetics | 2015 | PMID: 25596310 |
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. | Trunzo R | Clinical biochemistry | 2014 | PMID: 24296287 |
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. | Bik-Multanowski M | Acta biochimica Polonica | 2013 | PMID: 24350308 |
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness. | Polak E | Gene | 2013 | PMID: 23764561 |
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. | Zurflüh MR | Human mutation | 2008 | PMID: 17935162 |
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. | Fiori L | Molecular genetics and metabolism | 2005 | PMID: 16198137 |
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation. | Johnston JJ | Journal of inherited metabolic disease | 2004 | PMID: 15159646 |
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. | Aulehla-Scholz C | Human mutation | 2003 | PMID: 12655553 |
The molecular basis of phenylketonuria in Lithuania. | Kasnauskiene J | Human mutation | 2003 | PMID: 12655550 |
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. | Muntau AC | The New England journal of medicine | 2002 | PMID: 12501224 |
In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation. | Gjetting T | Molecular genetics and metabolism | 2001 | PMID: 11161839 |
Phenylketonuria mutations in Germany. | Zschocke J | Human genetics | 1999 | PMID: 10394930 |
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. | Carter KC | European journal of human genetics : EJHG | 1998 | PMID: 9781015 |
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. | Guldberg P | American journal of human genetics | 1998 | PMID: 9634518 |
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. | Zekanowski C | Human mutation | 1997 | PMID: 9298832 |
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. | Guldberg P | American journal of human genetics | 1996 | PMID: 8659548 |
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. | Guldberg P | Genomics | 1994 | PMID: 8088845 |
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis. | Zschocke J | Human mutation | 1994 | PMID: 7981714 |
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. | Guldberg P | Genomics | 1993 | PMID: 8406445 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PAH | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/0129bef0-6e1d-4f6b-8e4e-2c05721902af | - | - | - | - |
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Text-mined citations for rs76212747 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.