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Variant : CV86648 (NM_018923.2(PCDHGB2):c.1240G>A (p.Glu414Lys)) Homo sapiens

Symbol: CV86648
Name: NM_018923.2(PCDHGB2):c.1240G>A (p.Glu414Lys)
Condition: Malignant melanoma [RCV000066739]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGB1   PCDHGB2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140721126G>A
NM_018923.2:c.1240G>A
NM_032096.1:c.1240G>A
NM_018922.2:c.2409+8706G>A
NM_018912.2:c.2421+28270G>A
NM_018916.3:c.2424+14918G>A
NC_000005.10:g.141361375G>A
NC_000005.9:g.140740942G>A
NM_032053.1:c.*66+d3646G>A
NM_018918.2:c.1-u2956G>A
NM_032054.1:c.1-u2956G>A
NP_061746.1:p.Glu414Lys
NP_115267.1:p.Glu414Lys
NM_018915.3:c.2424+19980G>A
NM_018917.3:c.2514+3754G>A
NM_018917.2:c.2421+3754G>A
NM_018915.2:c.2424+19980G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,361,375 - 141,361,375CLINVAR
GRCh375140,740,942 - 140,740,942CLINVAR
Build 365140,721,126 - 140,721,126CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657782
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.