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Variant : CV86650 (NM_018918.2(PCDHGA5):c.625G>A (p.Asp209Asn)) Homo sapiens

Symbol: CV86650
Name: NM_018918.2(PCDHGA5):c.625G>A (p.Asp209Asn)
Condition: Malignant melanoma [RCV000066741]
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|intron variant|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140724706G>A
NM_018922.2:c.2409+12286G>A
NM_018923.2:c.2421+2399G>A
NM_018912.2:c.2421+31850G>A
NM_018916.3:c.2424+18498G>A
NM_018918.2:c.625G>A
NM_032054.1:c.625G>A
NC_000005.10:g.141364955G>A
NC_000005.9:g.140744522G>A
NM_032096.1:c.2436+d2384G>A
NP_061741.1:p.Asp209Asn
NP_114443.1:p.Asp209Asn
NM_018915.3:c.2424+23560G>A
NM_018917.3:c.2514+7334G>A
NM_018917.2:c.2421+7334G>A
NM_018915.2:c.2424+23560G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,364,955 - 141,364,955CLINVAR
GRCh375140,744,522 - 140,744,522CLINVAR
Build 365140,724,706 - 140,724,706CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657784
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.