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Variant : CV80211 (NM_003048.4(SLC9A2):c.2260G>A (p.Glu754Lys)) Homo sapiens

Symbol: CV80211
Name: NM_003048.4(SLC9A2):c.2260G>A (p.Glu754Lys)
Condition: Malignant melanoma [RCV000060287]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: SLC9A2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000002.12:g.102708310G>A
NC_000002.11:g.103324769G>A
NP_003039.2:p.Glu754Lys
NC_000002.10:g.102691201G>A
NM_003048.4:c.2260G>A
NM_003048.3:c.2260G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382102,708,310 - 102,708,310CLINVAR
GRCh372103,324,769 - 103,324,769CLINVAR
Build 362102,691,201 - 102,691,201CLINVAR
Cytogenetic Map22q12.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8625092
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.