Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV81084 (NM_018915.3(PCDHGA2):c.1384C>T (p.Pro462Ser)) Homo sapiens

Symbol: CV81084
Name: NM_018915.3(PCDHGA2):c.1384C>T (p.Pro462Ser)
Condition: Malignant melanoma [RCV000061162]
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:0001627)
Source: CLINVAR
Molecular Consequence: intron|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140700106C>T
NM_018912.2:c.2421+7250C>T
NC_000005.10:g.141340355C>T
NC_000005.9:g.140719922C>T
NM_018916.3:c.1-u3679C>T
NM_032011.1:c.1-u3679C>T
NP_061738.1:p.Pro462Ser
NP_114398.1:p.Pro462Ser
NM_018915.3:c.1384C>T
NM_032009.2:c.1384C>T
NM_032009.1:c.1384C>T
NM_018915.2:c.1384C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,340,355 - 141,340,355CLINVAR
GRCh375140,719,922 - 140,719,922CLINVAR
Build 365140,700,106 - 140,700,106CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657748
Created: 2014-06-10
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.