• delete

NM_001244580.1(TRRAP):c.4528G>A (p.Glu1510Lys) AND Malignant melanoma

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000068030.2

Allele description

NM_001244580.1(TRRAP):c.4528G>A (p.Glu1510Lys)

Gene:
TRRAP:transformation/transcription domain-associated protein [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_001244580.1(TRRAP):c.4528G>A (p.Glu1510Lys)
HGVS:
  • NC_000007.14:g.98948221G>A
  • NG_030010.1:g.74732G>A
  • NM_001244580.1:c.4528G>A
  • NM_003496.3:c.4474G>A
  • NP_001231509.1:p.Glu1510Lys
  • NP_003487.1:p.Glu1492Lys
  • NC_000007.12:g.98383780G>A
  • NC_000007.13:g.98545844G>A
  • NM_003496.1:c.4474G>A
  • NM_003496.2:c.4474G>A
Protein change:
E1510K
Links:
dbSNP: rs267601659
NCBI 1000 Genomes Browser:
rs267601659
Molecular consequence:
  • NM_001244580.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000099618Samuels Laboratory; NHGRI/NIH
no classification provided
not providedsomaticnot provided

Help

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, SCV000099618.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided155Tnot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2015