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Variant : CV84374 (NM_020216.3(RNPEP):c.679C>T (p.Pro227Ser)) Homo sapiens

Symbol: CV84374
Name: NM_020216.3(RNPEP):c.679C>T (p.Pro227Ser)
Condition: Malignant melanoma [RCV000064456]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: RNPEP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000001.9:g.200225224C>T
NM_020216.3:c.679C>T
NC_000001.11:g.201989473C>T
NC_000001.10:g.201958601C>T
NP_064601.3:p.Pro227Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381201,989,473 - 201,989,473CLINVAR
GRCh371201,958,601 - 201,958,601CLINVAR
Build 361200,225,224 - 200,225,224CLINVAR
Cytogenetic Map11q32.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8629229
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.