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Variant : CV83999 (NM_001146344.2(PRAMEF11):c.363T>C (p.Ala121=)) Homo sapiens

Symbol: CV83999
Name: NM_001146344.2(PRAMEF11):c.363T>C (p.Ala121=)
Condition: Malignant melanoma [RCV000064080]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PRAMEF11  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000001.9:g.12810207A>G
NC_000001.11:g.12827761A>G
NC_000001.10:g.12887620A>G
XM_001714837.1:c.467T>C
NM_001146344.2:c.363T>C
NM_001146344.1:c.237T>C
NP_001139816.1:p.Ala79=
NP_001139816.2:p.Ala121=
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,827,761 - 12,827,761CLINVAR
GRCh37112,887,620 - 12,887,620CLINVAR
Build 36112,810,207 - 12,810,207CLINVAR
Cytogenetic Map11p36.21CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8628855
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.