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Variant : CV90294 (NM_002590.3(PCDH8):c.3186G>A (p.Pro1062=)) Homo sapiens

Symbol: CV90294
Name: NM_002590.3(PCDH8):c.3186G>A (p.Pro1062=)
Condition: Malignant melanoma [RCV000070392]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDH8  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000013.9:g.52316723C>T
NM_032949.2:c.2895G>A
NM_002590.3:c.3186G>A
NC_000013.11:g.52844587C>T
NC_000013.10:g.53418722C>T
NM_032949.1:c.2895G>A
NM_002590.2:c.3186G>A
NP_002581.2:p.Pro1062=
NP_116567.1:p.Pro965=
Position
Human AssemblyChrPosition (strand)Source
GRCh381352,844,587 - 52,844,587CLINVAR
GRCh371353,418,722 - 53,418,722CLINVAR
Build 361352,316,723 - 52,316,723CLINVAR
Cytogenetic Map1313q14.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8635072
Created: 2014-05-13
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.