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Variant : CV86344 (NM_173536.3(GABRG1):c.367C>T (p.Arg123Cys)) Homo sapiens

Symbol: CV86344
Name: NM_173536.3(GABRG1):c.367C>T (p.Arg123Cys)
Condition: Malignant melanoma [RCV000066435]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: GABRG1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000004.10:g.45762313G>A
NM_173536.3:c.367C>T
NC_000004.12:g.46065539G>A
NC_000004.11:g.46067556G>A
NP_775807.2:p.Arg123Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38446,065,539 - 46,065,539CLINVAR
GRCh37446,067,556 - 46,067,556CLINVAR
Build 36445,762,313 - 45,762,313CLINVAR
Cytogenetic Map44p12CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8631188
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.