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Variant : CV84692 (NM_024664.3(PPCS):c.385G>T (p.Ala129Ser)) Homo sapiens

Symbol: CV84692
Name: NM_024664.3(PPCS):c.385G>T (p.Ala129Ser)
Condition: Malignant melanoma [RCV000064774]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PPCS   ZMYND12  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|5 prime utr variant
Evidence: literature only|not provided
HGVS Name(s): NC_000001.11:g.42456950G>T
NC_000001.10:g.42922621G>T
NM_032257.3:c.-259-u694C>A
NM_001146192.1:c.-428-u683C>A
NM_032257.4:c.-270-u683C>A
NP_078940.2:p.Ala129Ser
NM_001077447.2:c.-11-297G>T
NM_001146192.1:c.-1111C>A
NM_032257.4:c.-953C>A
NM_024664.3:c.385G>T
NM_001077447.1:c.-11-297G>T
NM_024664.2:c.385G>T
NC_000001.9:g.42695208G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38142,456,950 - 42,456,950CLINVAR
GRCh37142,922,621 - 42,922,621CLINVAR
Build 36142,695,208 - 42,695,208CLINVAR
Cytogenetic Map11p34.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8629545
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.