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Variant : CV83770 (NM_144991.2(TSPEAR):c.1138A>G (p.Ile380Val)) Homo sapiens

Symbol: CV83770
Name: NM_144991.2(TSPEAR):c.1138A>G (p.Ile380Val)
Condition: Malignant melanoma [RCV000063851]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: TSPEAR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_144991.2:c.1138A>G
NG_033806.1:g.189276A>G
NC_000021.9:g.44527303T>C
NC_000021.8:g.45947186T>C
NP_659428.2:p.Ile380Val
NC_000021.7:g.44771614T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,527,303 - 44,527,303CLINVAR
GRCh372145,947,186 - 45,947,186CLINVAR
Build 362144,771,614 - 44,771,614CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8628626
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.