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Variant : CV81902 (NM_176792.2(MRPL43):c.611C>T (p.Pro204Leu)) Homo sapiens

Symbol: CV81902
Name: NM_176792.2(MRPL43):c.611C>T (p.Pro204Leu)
Condition: Malignant melanoma [RCV000061981]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: MIR608   MRPL43   SEMA4G  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000010.9:g.102729037G>A
NM_176792.2:c.611C>T
NM_001203244.1:c.983+19G>A
NM_017893.3:c.983+19G>A
NG_011646.1:g.13226C>T
NC_000010.11:g.100979290G>A
NC_000010.10:g.102739047G>A
NM_176793.1:c.*86+d2087C>T
NR_030339.1:c.100+d4206G>A
NM_176794.1:c.*114+d2087C>T
NM_017893.2:c.983+19G>A
NP_789762.1:p.Pro204Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh3810100,979,290 - 100,979,290CLINVAR
GRCh3710102,739,047 - 102,739,047CLINVAR
Build 3610102,729,037 - 102,729,037CLINVAR
Cytogenetic Map1010q24.31CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8626758
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.