NM_000277.3(PAH):c.706+368T>C AND Phenylketonuria

Clinical significance:Likely pathogenic (Last evaluated: May 20, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001449885.1

Allele description [Variation Report for NM_000277.3(PAH):c.706+368T>C]

NM_000277.3(PAH):c.706+368T>C

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.706+368T>C
HGVS:
  • NC_000012.12:g.102854768A>G
  • NG_008690.2:g.108643T>C
  • NM_000277.3:c.706+368T>CMANE SELECT
  • NM_001354304.2:c.706+368T>C
  • NC_000012.11:g.103248546A>G
  • NM_000277.2:c.706+368T>C
Molecular consequence:
  • NM_000277.3:c.706+368T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354304.2:c.706+368T>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001653284Beijing Obstetrics and Gynecology Hospital,Capital Medical Universityno assertion criteria providedLikely pathogenic
(May 20, 2021)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Beijing Obstetrics and Gynecology Hospital,Capital Medical University, SCV001653284.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2021

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