NM_000277.3(PAH):c.1315+2T>C AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000088827.1

Allele description [Variation Report for NM_000277.3(PAH):c.1315+2T>C]

NM_000277.3(PAH):c.1315+2T>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.1315+2T>C
Other names:
NM_000277.2(PAH):c.1315+2T>C
HGVS:
  • NC_000012.12:g.102840398A>G
  • NG_008690.2:g.123013T>C
  • NM_000277.3:c.1315+2T>CMANE SELECT
  • NM_001354304.2:c.1315+2T>C
  • NC_000012.11:g.103234176A>G
  • NM_000277.1:c.1315+2T>C
Links:
dbSNP: rs1799970
NCBI 1000 Genomes Browser:
rs1799970
Molecular consequence:
  • NM_000277.3:c.1315+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354304.2:c.1315+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119419DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

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, SCV000119419.1

#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: Aug 27, 2021

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