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Variant : CV90266 (NM_032138.4(KBTBD7):c.1733G>A (p.Trp578Ter)) Homo sapiens

Symbol: CV90266
Name: NM_032138.4(KBTBD7):c.1733G>A (p.Trp578Ter)
Condition: Malignant melanoma [RCV000070364]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: KBTBD7  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense|intron variant
Evidence: literature only|not provided
HGVS Name(s): NM_032138.4:c.1733G>A
NC_000013.11:g.41192525C>T
NC_000013.10:g.41766661C>T
NP_115514.2:p.Trp578Ter
NC_000013.9:g.40664661C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381341,192,525 - 41,192,525CLINVAR
GRCh371341,766,661 - 41,766,661CLINVAR
Build 361340,664,661 - 40,664,661CLINVAR
Cytogenetic Map1313q14.11CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8635044
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.