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Variant : CV83992 (NM_001146344.2(PRAMEF11):c.759G>A (p.Glu253=)) Homo sapiens

Symbol: CV83992
Name: NM_001146344.2(PRAMEF11):c.759G>A (p.Glu253=)
Condition: Malignant melanoma [RCV000064073]
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.12809811C>T
NC_000001.11:g.12827365C>T
NC_000001.10:g.12887224C>T
XM_001714837.1:c.863G>A
NM_001146344.2:c.759G>A
NM_001146344.1:c.633G>A
NP_001139816.1:p.Glu211=
NP_001139816.2:p.Glu253=
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,827,365 - 12,827,365CLINVAR
GRCh37112,887,224 - 12,887,224CLINVAR
Build 36112,809,811 - 12,809,811CLINVAR
Cytogenetic Map11p36.21CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8628848
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.