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NM_000277.3(PAH):c.619A>G (p.Asn207Asp) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000089014.1

Allele description [Variation Report for NM_000277.3(PAH):c.619A>G (p.Asn207Asp)]

NM_000277.3(PAH):c.619A>G (p.Asn207Asp)

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.619A>G (p.Asn207Asp)
HGVS:
  • NC_000012.12:g.102855223T>C
  • NG_008690.2:g.108188A>G
  • NM_000277.3:c.619A>GMANE SELECT
  • NM_001354304.2:c.619A>G
  • NP_000268.1:p.Asn207Asp
  • NP_001341233.1:p.Asn207Asp
  • NC_000012.11:g.103249001T>C
  • NM_000277.1:c.619A>G
  • P00439:p.Asn207Asp
Protein change:
N207D
Links:
UniProtKB: P00439#VAR_000926; dbSNP: rs62508572
NCBI 1000 Genomes Browser:
rs62508572
Molecular consequence:
  • NM_000277.3:c.619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.619A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000119618DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022