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Variant : CV79997 (NM_000228.2(LAMB3):c.2013G>A (p.Leu671=)) Homo sapiens

Symbol: CV79997
Name: NM_000228.2(LAMB3):c.2013G>A (p.Leu671=)
Condition: Malignant melanoma [RCV000060073]
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:0001636)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NM_000228.2:c.2013G>A
NM_001127641.1:c.2013G>A
NM_001017402.1:c.2013G>A
NG_007116.1:g.33512G>A
NC_000001.11:g.209623964C>T
NC_000001.10:g.209797309C>T
NR_036213.1:c.1-u454G>A
NP_000219.2:p.Leu671=
NR_036213.1:n.-454G>A
NP_001017402.1:p.Leu671=
NP_001121113.1:p.Leu671=
NC_000001.9:g.207863932C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381209,623,964 - 209,623,964CLINVAR
GRCh371209,797,309 - 209,797,309CLINVAR
Build 361207,863,932 - 207,863,932CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8624881
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.