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Variant : CV79996 (NM_000228.2(LAMB3):c.2432G>A (p.Gly811Asp)) Homo sapiens

Symbol: CV79996
Name: NM_000228.2(LAMB3):c.2432G>A (p.Gly811Asp)
Condition: Malignant melanoma [RCV000060072]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: LAMB3   MIR4260  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|500b downstream variant
Evidence: literature only|not provided
HGVS Name(s): NM_000228.2:c.2432G>A
NM_001127641.1:c.2432G>A
NM_001017402.1:c.2432G>A
NG_007116.1:g.34370G>A
NC_000001.11:g.209623106C>T
NC_000001.10:g.209796451C>T
NR_036213.1:c.67+d338G>A
NP_000219.2:p.Gly811Asp
NP_001017402.1:p.Gly811Asp
NP_001121113.1:p.Gly811Asp
NR_036213.1:n.405G>A
NC_000001.9:g.207863074C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381209,623,106 - 209,623,106CLINVAR
GRCh371209,796,451 - 209,796,451CLINVAR
Build 361207,863,074 - 207,863,074CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8624880
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.