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Variant : CV86645 (NM_018916.3(PCDHGA3):c.876C>T (p.Phe292=)) Homo sapiens

Symbol: CV86645
Name: NM_018916.3(PCDHGA3):c.876C>T (p.Phe292=)
Condition: Malignant melanoma [RCV000066736]
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
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140704660C>T
NM_018912.2:c.2421+11804C>T
NM_018916.3:c.876C>T
NM_032011.1:c.876C>T
NC_000005.10:g.141344909C>T
NC_000005.9:g.140724476C>T
NM_032009.1:c.2472+d3466C>T
NP_061739.2:p.Phe292=
NP_114400.1:p.Phe292=
NM_018915.3:c.2424+3514C>T
NM_018915.2:c.2424+3514C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,344,909 - 141,344,909CLINVAR
GRCh375140,724,476 - 140,724,476CLINVAR
Build 365140,704,660 - 140,704,660CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657779
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.