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Variant : CV85285 (NM_001277372.1(LOC100652824):c.1387C>T (p.Pro463Ser)) Homo sapiens

Symbol: CV85285
Name: NM_001277372.1(LOC100652824):c.1387C>T (p.Pro463Ser)
Condition: Malignant melanoma [RCV000065367]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: KIAA2012  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000002.12:g.202105823C>T
NC_000002.11:g.202970546C>T
XR_040657.1:c.1928C>T
NM_001277372.1:c.1387C>T
NP_001264301.1:p.Pro463Ser
NC_000002.10:g.202678791C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382202,105,823 - 202,105,823CLINVAR
GRCh372202,970,546 - 202,970,546CLINVAR
Build 362202,678,791 - 202,678,791CLINVAR
Cytogenetic Map22q33.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8630138
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.