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Variant : CV84693 (NM_001077447.2(PPCS):c.127C>T (p.Pro43Ser)) Homo sapiens

Symbol: CV84693
Name: NM_001077447.2(PPCS):c.127C>T (p.Pro43Ser)
Condition: Malignant melanoma [RCV000064775]
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:0001627)
Source: CLINVAR
Molecular Consequence: missense variant|intron|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000001.11:g.42459636C>T
NC_000001.10:g.42925307C>T
NM_032257.3:c.-259-u3380G>A
NM_001146192.1:c.-428-u3369G>A
NM_032257.4:c.-270-u3369G>A
NP_078940.2:p.Pro216Ser
NP_001070915.1:p.Pro43Ser
NM_001077447.2:c.127C>T
NM_024664.3:c.646C>T
NM_001077447.1:c.127C>T
NM_024664.2:c.646C>T
NC_000001.9:g.42697894C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38142,459,636 - 42,459,636CLINVAR
GRCh37142,925,307 - 42,925,307CLINVAR
Build 36142,697,894 - 42,697,894CLINVAR
Cytogenetic Map11p34.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8629546
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.