NM_000277.2(PAH):c.694C>T (p.Gln232Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000089039.1

Allele description

NM_000277.2(PAH):c.694C>T (p.Gln232Ter)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.2(PAH):c.694C>T (p.Gln232Ter)
HGVS:
  • NC_000012.12:g.102855148G>A
  • NG_008690.2:g.108263C>T
  • NM_000277.2:c.694C>T
  • NP_000268.1:p.Gln232Ter
  • NC_000012.11:g.103248926G>A
  • NM_000277.1:c.694C>T
  • p.Gln232*
Protein change:
Q232*
Links:
dbSNP: rs62507348
NCBI 1000 Genomes Browser:
rs62507348
Allele Frequency:
0.00001(A), GO-ESP
Molecular consequence:
  • NM_000277.2:c.694C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119644DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

SCV000601715Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(May 19, 2017)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.

PĂ©rez B, Desviat LR, De Lucca M, Cornejo V, Raimann E, Ugarte M.

Hum Mutat. 1999;13(6):503.

PubMed [citation]
PMID:
10408782

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project., Bamshad MJ.

Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25087612
PMCID:
PMC4129409
See all PubMed Citations (9)

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119644.1

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601715.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 14, 2018