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Variant : CV91486 (NM_004758.3(BZRAP1):c.4522G>T (p.Glu1508Ter)) Homo sapiens

Symbol: CV91486
Name: NM_004758.3(BZRAP1):c.4522G>T (p.Glu1508Ter)
Condition: Malignant melanoma [RCV000071584]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: TSPOAP1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only|not provided
HGVS Name(s): NC_000017.11:g.58308750C>A
NC_000017.10:g.56386111C>A
NM_024418.2:c.4342G>T
NM_004758.3:c.4522G>T
NM_024418.1:c.4342G>T
NM_004758.2:c.4522G>T
NM_004758.1:c.4522G>T
NP_077729.1:p.Glu1448Ter
NP_004749.2:p.Glu1508Ter
NC_000017.9:g.53741110C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381758,308,750 - 58,308,750CLINVAR
GRCh371756,386,111 - 56,386,111CLINVAR
Build 361753,741,110 - 53,741,110CLINVAR
Cytogenetic Map1717q22CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8636262
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.