• delete

NM_006514.3(SCN10A):c.3315A>C (p.Ala1105=) AND Malignant melanoma

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:
RCV000066043.2

Allele description

NM_006514.3(SCN10A):c.3315A>C (p.Ala1105=)

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.3315A>C (p.Ala1105=)
HGVS:
  • NC_000003.12:g.38723467T>G
  • NG_031891.2:g.75544A>C
  • NM_006514.3:c.3315A>C
  • NP_006505.3:p.Ala1105=
  • NC_000003.10:g.38739962T>G
  • NC_000003.11:g.38764958T>G
  • NG_031891.1:g.75544A>C
  • NM_006514.2:c.3315A>C
  • NP_006505.2:p.Ala1105=
Links:
dbSNP: 267599802
NCBI 1000 Genomes Browser:
rs267599802
Molecular consequence:
  • NM_006514.2:c.3315A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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
SCV000097619Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

7T

SCV000097619

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Samuels Laboratory; NHGRI/NIH, SCV000097619.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided17Tnot providednot providednot providednot providednot provided

Last Updated: Jun 26, 2015