• delete

NM_001059.2(TACR3):c.877G>A (p.Ala293Thr) 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:
RCV000074313.2

Allele description

NM_001059.2(TACR3):c.877G>A (p.Ala293Thr)

Gene:
TACR3:tachykinin receptor 3 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_001059.2(TACR3):c.877G>A (p.Ala293Thr)
HGVS:
  • NC_000004.12:g.103656205C>T
  • NG_023344.1:g.68612G>A
  • NM_001059.2:c.877G>A
  • NP_001050.1:p.Ala293Thr
  • NC_000004.10:g.104796811C>T
  • NC_000004.11:g.104577362C>T
  • NM_001059.1:c.877G>A
Protein change:
A293T
Links:
dbSNP: 267599973
NCBI 1000 Genomes Browser:
rs267599973
Molecular consequence:
  • NM_001059.2:c.877G>A - 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 Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000097807Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

81T

SCV000097807

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, SCV000097807.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided181Tnot providednot providednot providednot providednot provided

Last Updated: Jun 26, 2015