NM_006514.3(SCN10A):c.2767C>T (p.Arg923Cys) AND Malignant melanoma

Clinical significance:not provided

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

not classified by submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000066044.2

Allele description [Variation Report for NM_006514.3(SCN10A):c.2767C>T (p.Arg923Cys)]

Gene:
SCN10A:sodium channel, voltage gated, type X alpha subunit [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_006514.3(SCN10A):c.2767C>T (p.Arg923Cys)
HGVS:
  • NC_000003.12:g.38726926G>A
  • NG_031891.2:g.72085C>T
  • NM_006514.3:c.2767C>T
  • NP_006505.3:p.Arg923Cys
  • NC_000003.10:g.38743421G>A
  • NC_000003.11:g.38768417G>A
  • NG_031891.1:g.72085C>T
  • NM_006514.2:c.2767C>T
  • NP_006505.2:p.Arg923Cys
Protein change:
R923C
Links:
dbSNP: 267599803
NCBI 1000 Genomes Browser:
rs267599803
Allele Frequency:
0.0001, GO-ESP
Molecular consequence:
  • NM_006514.2:c.2767C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant melanoma
Synonyms:
Melanoma; Malignant melanoma, somatic
Identifiers:
MedGen: C0025202

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000097620Samuels NHGRI/NIHclassified by single submitternot providedsomaticnot provided

Description

130T

SCV000097620

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Samuels NHGRI/NIH, SCV000097620.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1somaticnot provided1130Tnot providednot providednot providednot providednot provided

Last Updated: Jan 27, 2015

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