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Variant : CV86654 (NM_032097.2(PCDHGB3):c.1708G>A (p.Glu570Lys)) Homo sapiens

Symbol: CV86654
Name: NM_032097.2(PCDHGB3):c.1708G>A (p.Glu570Lys)
Condition: Malignant melanoma [RCV000066745]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGB1   PCDHGB2   PCDHGB3  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|intron|intron variant|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140731853G>A
NM_032097.2:c.1708G>A
NM_018924.2:c.1708G>A
NM_032097.1:c.1708G>A
NP_061747.1:p.Glu570Lys
NP_115268.1:p.Glu570Lys
NP_115268.2:p.Glu570Lys
NP_061747.2:p.Glu570Lys
NM_018922.2:c.2409+19433G>A
NM_018912.2:c.2421+38997G>A
NM_018918.2:c.2421+5351G>A
NM_018923.2:c.2421+9546G>A
NM_018916.3:c.2424+25645G>A
NC_000005.10:g.141372102G>A
NC_000005.9:g.140751669G>A
NM_018919.2:c.1-u1982G>A
NM_032086.1:c.1-u1982G>A
NM_018919.2:c.-1982G>A
NM_032086.1:c.-1982G>A
NM_018915.3:c.2424+30707G>A
NM_018917.3:c.2514+14481G>A
NM_018917.2:c.2421+14481G>A
NM_018915.2:c.2424+30707G>A
NM_018924.4:c.1708G>A
NM_018924.3:c.1708G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,372,102 - 141,372,102CLINVAR
GRCh375140,751,669 - 140,751,669CLINVAR
Build 365140,731,853 - 140,731,853CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8658681
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.