PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PM2: ExAC MAF: 0.00010; PP4_Moderate: BH4 defect excluded in all patients in Liu 2015. Identified in 6 patients in this study (PMID:10394930; PMID:26600521); PM3_Strong: Identified in 6 patients, in trans with R243Q and R241C (both pathogenic) (PMID:26600521). 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: (PVS1, PM2, PP4_Moderate, PM3_Strong).
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
Germline
Reviewed by expert panel
Help
Reviewed by expert panel. Learn more about how ClinVar calculates review status.
Pathogenic
for
Phenylketonuria
Classification is based on the expert panel submission
Aug 2018 by
ClinGen PAH Variant Curation Expert Panel
Help
FDA Recognized Database
The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
Variation ID: 102723 Accession: VCV000102723.40
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 12q23.2 12: 102855316 (GRCh38) [ NCBI UCSC ] 12: 103249094 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Jul 27, 2026 Aug 13, 2018 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000277.3:c.526C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000268.1:p.Arg176Ter nonsense NM_000277.2:c.526C>T NM_001354304.2:c.526C>T NP_001341233.1:p.Arg176Ter nonsense NC_000012.12:g.102855316G>A NC_000012.11:g.103249094G>A NG_008690.2:g.108095C>T - Protein change
- R176*
- Other names
-
NM_000277.2(PAH):c.526C>T
- Canonical SPDI
- NC_000012.12:102855315:G:A
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
- Links
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 | ||
|---|---|---|---|---|---|---|
| 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. |
|||
| PAH | Gene associated with autosomal recessive phenotype | No evidence available |
GRCh38 GRCh37 |
1630 | 1773 | |
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. |
|---|---|---|---|---|
| Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
|
May 1, 2025 | RCV000088971.20 | |
| Pathogenic (14) |
reviewed by expert panel
|
Aug 13, 2018 | RCV000179282.31 |
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. |
Expand all rows
Collapse all rows
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Aug 13, 2018)
C
Contributing to aggregate classification
|
reviewed by expert panel
|
Phenylketonuria
(Autosomal recessive inheritance)
|
ClinGen PAH Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000852175.4 First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
Comment:
show
PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PM2: ExAC MAF: 0.00010; PP4_Moderate: BH4 defect excluded in all patients in Liu 2015. Identified in 6 patients in this study (PMID:10394930; PMID:26600521); PM3_Strong: Identified in 6 patients, in trans with R243Q and R241C (both pathogenic) (PMID:26600521). 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: (PVS1, PM2, PP4_Moderate, PM3_Strong). (less)
Observation: 1
Collection method: curation
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: curation
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Oct 08, 2014)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000744099.1 First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(Jul 26, 2016)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745573.1 First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(Oct 31, 2018)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893951.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
Pathogenic
(Jul 20, 2018)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888349.2
First in ClinVar: Dec 15, 2018 Last updated: Jan 01, 2022 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Mar 27, 2024)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Baylor Genetics
Accession: SCV004201383.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
Pathogenic
(Mar 05, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696453.2
First in ClinVar: Dec 26, 2017 Last updated: May 03, 2025 |
Comment:
show
Variant summary: PAH c.526C>T (p.Arg176X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251136 control chromosomes. Multiple publications have cited the variant in affected compound heterozygote and homozygote PKU pts, which present with <1% PAH activity. A different variant affecting the same codon has been classified as pathogenic by our lab (c.527G>T, p.Arg176Leu), supporting the critical relevance of codon 176 to PAH protein function. The following publications have been ascertained in the context of this evaluation (PMID: 26322415, 19786003, 21871829, 20920871). ClinVar contains an entry for this variant (Variation ID: 102723). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(-)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Juno Genomics, Hangzhou Juno Genomics, Inc
Accession: SCV005418246.2
First in ClinVar: Nov 30, 2024 Last updated: Oct 05, 2025 |
Comment:
show
Null variant in a gene where loss of function (LOF) is a known mechanism of disease.;Absent from controls (or at extremely low frequency if recessive) in Genome Aggregation Database, Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.;For recessive disorders, detected in trans with a pathogenic variant. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(Jun 20, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
OLLIN Analises Genomicas, OLLIN
Accession: SCV007520837.1
First in ClinVar: Mar 28, 2026 Last updated: Mar 28, 2026 |
Comment:
show
The nonsense variant (chr12:102855316G>A), located in exon 6 (of 13), is reported in ClinVar (VCV000102723.34), in gnomAD v4.1 non-UKB with an allele frequency of 0.0017%, and in the scientific literature, also in compound heterozygosity, in individuals with phenylketonuria (PMID: 26600521, 10394930, 26600521). This variant introduces a premature stop codon, resulting in a truncated protein or mRNA degradation via nonsense-mediated decay (NMD). According to currently available evidence and the specific ClinGen criteria for the gene (PMID: 30311390, version 2.0, updated on 07/16/2024 - GN006), this variant has been classified as pathogenic (PVS1, PM2_P, PM3_S)*. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Number of individuals with the variant: 1
Sex: female
Geographic origin: Brazil
|
|
|
Pathogenic
(Sep 25, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Natera, Inc.
Accession: SCV001455097.2
First in ClinVar: Jan 02, 2021 Last updated: Apr 04, 2026 |
Comment:
show
The c.526C>T variant in PAH is a nonsense variant predicted to introduce a stop codon at amino acid 176. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 30050108). Given the available evidence, this variant is classified as Pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Nov 13, 2024)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Dasa
Accession: SCV007599579.1
First in ClinVar: May 30, 2026 Last updated: May 30, 2026 |
Comment:
show
NM_000277.3(PAH):c.526C>T (p.Arg176*) introduces a premature termination codon predicted to result in loss of normal protein function. Loss-of-function is an established mechanism of disease for this gene. This variant has been observed in affected individuals with related phenotype in a genotype context consistent with recessive disease (PMID: 26600521; PMID: 26413448). This variant has been recurrently observed in individuals with related phenotype (PMID: 26600521; PMID: 26413448). The variant is present at low frequency in population datasets. Based on the available data, this variant is classified as pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Aug 08, 2014)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Eurofins Ntd Llc (ga)
Accession: SCV000231507.6
First in ClinVar: Jun 28, 2015 Last updated: Apr 13, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Number of individuals with the variant: 2
Zygosity: 2 Single Heterozygotes
Sex: mixed
|
|
|
Pathogenic
(Jul 22, 2021)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Genome-Nilou Lab
Accession: SCV001810542.2
First in ClinVar: Sep 08, 2021 Last updated: Apr 13, 2025 |
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: no
Sex: mixed
|
|
|
Pathogenic
(Apr 26, 2022)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Department of Pathology and Laboratory Medicine, Sinai Health System
Accession: SCV006057708.1
First in ClinVar: Apr 28, 2025 Last updated: Apr 28, 2025 |
Observation: 1
Collection method: research
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: research
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Jan 21, 2026)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000629197.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 23, 2026 |
Comment:
show
This sequence change creates a premature translational stop signal (p.Arg176*) in the PAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). This variant is present in population databases (rs199475575, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with phenyketonuria (PMID: 8268925, 17935162, 23514811, 26413448, 26503515). ClinVar contains an entry for this variant (Variation ID: 102723). For these reasons, this variant has been classified as Pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Jan 19, 2026)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
Phenylketonuria |
3billion
Accession: SCV002573258.2
First in ClinVar: Sep 17, 2022 Last updated: Jun 20, 2026 |
Comment:
show
The variant is observed at an extremely low frequency in the gnomAD v4.1.0 dataset (total allele frequency: 0.001%). Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 2 similarly affected unrelated individuals (PMID: 26600521). The variant has been reported multiple times as an established pathogenic variant (ClinVar ID: VCV000102723 /PMID: 8268925 /3billion dataset). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Platform type: exome sequencing
|
|
|
Pathogenic
(May 01, 2025)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
CeGaT Center for Human Genetics Tuebingen
Accession: SCV006096675.9
First in ClinVar: Jun 22, 2025 Last updated: Jul 27, 2026 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Number of individuals with the variant: 1
|
|
|
Pathogenic
(Jan 21, 2016)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Phenylketonuria |
Counsyl
Accession: SCV000485295.3
First in ClinVar: Jun 28, 2015 Last updated: Jun 29, 2025 |
Comment:
show
This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. (less)
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
not provided
(-)
N
Not contributing to aggregate classification
|
no classification provided
|
not provided |
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
Accession: SCV000119574.1
First in ClinVar: Mar 19, 2014 Last updated: Mar 19, 2014 |
Observation: 1
Collection method: not provided
Allele origin: not provided
Affected status: not provided
Observation 1
Collection method: not provided
Allele origin: not provided
Affected status: not provided
|
|
Comment:
Comment:
Variant summary: PAH c.526C>T (p.Arg176X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251136 control chromosomes. Multiple publications have cited the variant in affected compound heterozygote and homozygote PKU pts, which present with <1% PAH activity. A different variant affecting the same codon has been classified as pathogenic by our lab (c.527G>T, p.Arg176Leu), supporting the critical relevance of codon 176 to PAH protein function. The following publications have been ascertained in the context of this evaluation (PMID: 26322415, 19786003, 21871829, 20920871). ClinVar contains an entry for this variant (Variation ID: 102723). Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
Null variant in a gene where loss of function (LOF) is a known mechanism of disease.;Absent from controls (or at extremely low frequency if recessive) in Genome Aggregation Database, Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.;For recessive disorders, detected in trans with a pathogenic variant.
Comment:
The nonsense variant (chr12:102855316G>A), located in exon 6 (of 13), is reported in ClinVar (VCV000102723.34), in gnomAD v4.1 non-UKB with an allele frequency of 0.0017%, and in the scientific literature, also in compound heterozygosity, in individuals with phenylketonuria (PMID: 26600521, 10394930, 26600521). This variant introduces a premature stop codon, resulting in a truncated protein or mRNA degradation via nonsense-mediated decay (NMD). According to currently available evidence and the specific ClinGen criteria for the gene (PMID: 30311390, version 2.0, updated on 07/16/2024 - GN006), this variant has been classified as pathogenic (PVS1, PM2_P, PM3_S)*.
Comment:
The c.526C>T variant in PAH is a nonsense variant predicted to introduce a stop codon at amino acid 176. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 30050108). Given the available evidence, this variant is classified as Pathogenic.
Comment:
NM_000277.3(PAH):c.526C>T (p.Arg176*) introduces a premature termination codon predicted to result in loss of normal protein function. Loss-of-function is an established mechanism of disease for this gene. This variant has been observed in affected individuals with related phenotype in a genotype context consistent with recessive disease (PMID: 26600521; PMID: 26413448). This variant has been recurrently observed in individuals with related phenotype (PMID: 26600521; PMID: 26413448). The variant is present at low frequency in population datasets. Based on the available data, this variant is classified as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Arg176*) in the PAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). This variant is present in population databases (rs199475575, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with phenyketonuria (PMID: 8268925, 17935162, 23514811, 26413448, 26503515). ClinVar contains an entry for this variant (Variation ID: 102723). For these reasons, this variant has been classified as Pathogenic.
Comment:
The variant is observed at an extremely low frequency in the gnomAD v4.1.0 dataset (total allele frequency: 0.001%). Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 2 similarly affected unrelated individuals (PMID: 26600521). The variant has been reported multiple times as an established pathogenic variant (ClinVar ID: VCV000102723 /PMID: 8268925 /3billion dataset). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Comment:
PAH: PM3:Very Strong, PVS1, PM2, PP4:Moderate
Comment:
This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. | Zastrow DB | Human mutation | 2018 | PMID: 30311390 |
| Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. | Li N | Scientific reports | 2018 | PMID: 30050108 |
| Prenatal diagnosis of Chinese families with phenylketonuria. | Liu N | Genetics and molecular research : GMR | 2015 | PMID: 26600521 |
| Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. | Li N | Scientific reports | 2015 | PMID: 26503515 |
| Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria. | Biglari A | SpringerPlus | 2015 | PMID: 26413448 |
| Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria. | Tao J | Pediatric research | 2015 | PMID: 26322415 |
| RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
| A preliminary mutation analysis of phenylketonuria in southwest Iran. | Ajami N | Genetics and molecular research : GMR | 2013 | PMID: 24301756 |
| Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. | Bueno MA | Journal of human genetics | 2013 | PMID: 23514811 |
| Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. | Couce ML | Gene | 2013 | PMID: 23500595 |
| Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran. | Moradi K | Indian journal of human genetics | 2012 | PMID: 23716935 |
| Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran. | Hamzehloei T | Gene | 2012 | PMID: 22763404 |
| Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. | Rivera I | Molecular genetics and metabolism | 2011 | PMID: 21871829 |
| Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. | Dobrowolski SF | Molecular genetics and metabolism | 2011 | PMID: 21147011 |
| Mutation spectrum of phenylketonuria in Iranian population. | Zare-Karizi Sh | Molecular genetics and metabolism | 2011 | PMID: 20920871 |
| Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. | Dahri S | Clinical biochemistry | 2010 | PMID: 19786003 |
| Mutation characteristics of the PAH gene in four nationality groups in Xinjiang of China. | Yu WZ | Journal of genetics | 2008 | PMID: 19147918 |
| PKU in Minas Gerais State, Brazil: mutation analysis. | Santos LL | Annals of human genetics | 2008 | PMID: 18798839 |
| Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. | Zurflüh MR | Human mutation | 2008 | PMID: 17935162 |
| The molecular basis of phenylketonuria in Koreans. | Lee DH | Journal of human genetics | 2004 | PMID: 15503242 |
| Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. | Desviat LR | Molecular genetics and metabolism | 2004 | PMID: 15464430 |
| A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency. | Steinfeld R | Amino acids | 2003 | PMID: 12836060 |
| 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 |
| Molecular basis of phenylketonuria in Cuba. | Desviat LR | Human mutation | 2001 | PMID: 11524738 |
| Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. | Mallolas J | Human genetics | 1999 | PMID: 10598814 |
| Phenylketonuria mutations in Germany. | Zschocke J | Human genetics | 1999 | PMID: 10394930 |
| 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 |
| Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. | Guldberg P | Human molecular genetics | 1993 | PMID: 8268925 |
| Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. | Eisensmith RC | Human mutation | 1992 | PMID: 1301187 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PAH | - | - | - | - |
| http://www.pahdb.mcgill.ca/ | - | - | - | - |
| https://erepo.clinicalgenome.org/evrepo/ui/interpretation/08d51386-af9e-4de1-8e7b-0dc6c2252c91 | - | - | - | - |
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Text-mined citations for rs199475575 ...
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Record last updated Jul 27, 2026
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