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NM_000277.3(PAH):c.940C>T (p.Pro314Ser) 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:
RCV000089169.1

Allele description [Variation Report for NM_000277.3(PAH):c.940C>T (p.Pro314Ser)]

NM_000277.3(PAH):c.940C>T (p.Pro314Ser)

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.940C>T (p.Pro314Ser)
Other names:
NM_000277.2(PAH):c.940C>T
HGVS:
  • NC_000012.12:g.102846924G>A
  • NG_008690.2:g.116487C>T
  • NM_000277.3:c.940C>TMANE SELECT
  • NM_001354304.2:c.940C>T
  • NP_000268.1:p.Pro314Ser
  • NP_001341233.1:p.Pro314Ser
  • NC_000012.11:g.103240702G>A
  • NC_000012.11:g.103240702G>A
  • NM_000277.1:c.940C>T
  • P00439:p.Pro314Ser
Protein change:
P314S
Links:
UniProtKB: P00439#VAR_068006; dbSNP: rs199475650
NCBI 1000 Genomes Browser:
rs199475650
Molecular consequence:
  • NM_000277.3:c.940C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.940C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119784DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
no classification provided
not 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, SCV000119784.1

#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: Sep 29, 2024