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Variant : CV86644 (NM_018916.3(PCDHGA3):c.452G>A (p.Arg151Gln)) Homo sapiens

Symbol: CV86644
Name: NM_018916.3(PCDHGA3):c.452G>A (p.Arg151Gln)
Condition: Malignant melanoma [RCV000066735]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA2   PCDHGA3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140704236G>A
NM_018912.2:c.2421+11380G>A
NM_018916.3:c.452G>A
NM_032011.1:c.452G>A
NC_000005.10:g.141344485G>A
NC_000005.9:g.140724052G>A
NM_032009.1:c.2472+d3042G>A
NP_061739.2:p.Arg151Gln
NP_114400.1:p.Arg151Gln
NM_018915.3:c.2424+3090G>A
NM_018915.2:c.2424+3090G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,344,485 - 141,344,485CLINVAR
GRCh375140,724,052 - 140,724,052CLINVAR
Build 365140,704,236 - 140,704,236CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657778
Created: 2014-06-10
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.