NM_000277.3(PAH):c.671T>C (p.Ile224Thr) AND Phenylketonuria

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261644.1

Allele description [Variation Report for NM_000277.3(PAH):c.671T>C (p.Ile224Thr)]

NM_000277.3(PAH):c.671T>C (p.Ile224Thr)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
HGVS:
  • NC_000012.12:g.102855171A>G
  • NG_008690.2:g.108240T>C
  • NM_000277.3:c.671T>CMANE SELECT
  • NM_001354304.2:c.671T>C
  • NP_000268.1:p.Ile224Thr
  • NP_001341233.1:p.Ile224Thr
  • NC_000012.11:g.103248949A>G
  • NM_000277.1:c.671T>C
Protein change:
I224T
Links:
dbSNP: rs62507323
NCBI 1000 Genomes Browser:
rs62507323
Molecular consequence:
  • NM_000277.3:c.671T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.671T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Phenylketonuria (PKU)
Synonyms:
Phenylketonurias; Oligophrenia phenylpyruvica; Folling disease
Identifiers:
MONDO: MONDO:0009861; MedGen: C0031485; Orphanet: 716; OMIM: 261600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438943Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2021

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