• delete

NM_178125.3(TRIM50):c.858C>T (p.Phe286=) 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:
RCV000061673.2

Allele description

NM_178125.3(TRIM50):c.858C>T (p.Phe286=)

Gene:
TRIM50:tripartite motif containing 50 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_178125.3(TRIM50):c.858C>T (p.Phe286=)
HGVS:
  • NC_000007.14:g.73316581G>A
  • NM_178125.3:c.858C>T
  • NP_835226.2:p.Phe286=
  • NC_000007.12:g.72368516G>A
  • NC_000007.13:g.72730580G>A
  • NM_178125.2:c.858C>T
  • NP_835226.1:p.Phe286Phe=
Links:
dbSNP: rs145677183
NCBI 1000 Genomes Browser:
rs145677183
Molecular consequence:
  • NM_001281450.1:c.855C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000093243Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

22T

SCV000093243

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, SCV000093243.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided122Tnot providednot providednot providednot providednot provided

Last Updated: Jun 26, 2015

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