NM_001059.2(TACR3):c.1359C>T (p.Phe453=) 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:
RCV000074312.2

Allele description [Variation Report for NM_001059.2(TACR3):c.1359C>T (p.Phe453=)]

Gene:
TACR3:tachykinin receptor 3 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_001059.2(TACR3):c.1359C>T (p.Phe453=)
HGVS:
  • NC_000004.12:g.103589721G>A
  • NG_023344.1:g.135096C>T
  • NM_001059.2:c.1359C>T
  • NP_001050.1:p.Phe453=
  • NC_000004.10:g.104730327G>A
  • NC_000004.11:g.104510878G>A
  • NM_001059.1:c.1359C>T
Links:
dbSNP: 267599971
NCBI 1000 Genomes Browser:
rs267599971
Molecular consequence:
  • NM_001059.2:c.1359C>T - synonymous variant - [Sequence Ontology: SO:0001588]

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
SCV000097805Samuels NHGRI/NIHclassified by single submitternot providedsomaticnot provided

Description

colo-829

SCV000097805

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providednot provided

Details of each submission

From Samuels NHGRI/NIH, SCV000097805.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2014

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