Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV83997 (NM_001146344.2(PRAMEF11):c.383T>C (p.Leu128Pro)) Homo sapiens

Symbol: CV83997
Name: NM_001146344.2(PRAMEF11):c.383T>C (p.Leu128Pro)
Condition: Malignant melanoma [RCV000064078]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PRAMEF11  
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.12810187A>G
NC_000001.11:g.12827741A>G
NC_000001.10:g.12887600A>G
XM_001714837.1:c.487T>C
NM_001146344.2:c.383T>C
NM_001146344.1:c.257T>C
NP_001139816.1:p.Leu86Pro
NP_001139816.2:p.Leu128Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,827,741 - 12,827,741CLINVAR
GRCh37112,887,600 - 12,887,600CLINVAR
Build 36112,810,187 - 12,810,187CLINVAR
Cytogenetic Map11p36.21CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8628853
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.