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Variant : CV86643 (NM_018915.3(PCDHGA2):c.2273C>T (p.Ser758Phe)) Homo sapiens

Symbol: CV86643
Name: NM_018915.3(PCDHGA2):c.2273C>T (p.Ser758Phe)
Condition: Malignant melanoma [RCV000066734]
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|intron variant|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_018915.3:c.2273C>T
NM_032009.2:c.2273C>T
NM_018915.2:c.2273C>T
NC_000005.8:g.140700995C>T
NM_018912.2:c.2421+8139C>T
NC_000005.10:g.141341244C>T
NC_000005.9:g.140720811C>T
NM_018916.3:c.1-u2790C>T
NM_032011.1:c.1-u2790C>T
NP_061738.1:p.Ser758Phe
NP_114398.1:p.Ser758Phe
NM_032009.1:c.2273C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,341,244 - 141,341,244CLINVAR
GRCh375140,720,811 - 140,720,811CLINVAR
Build 365140,700,995 - 140,700,995CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657777
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.