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Variant : CV88122 (NM_001024678.3(LRRC24):c.1381G>A (p.Glu461Lys)) Homo sapiens

Symbol: CV88122
Name: NM_001024678.3(LRRC24):c.1381G>A (p.Glu461Lys)
Condition: Malignant melanoma [RCV000068214]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: C8orf82   LRRC14   LRRC24   RECQL4  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: missense|missense variant|3 prime utr variant
Evidence: literature only|not provided
HGVS Name(s): NM_014665.3:c.*1158C>T
NM_001024678.3:c.1381G>A
NG_033083.1:g.9672C>T
NC_000008.11:g.144522636C>T
NC_000008.10:g.145748020C>T
NM_004260.2:c.-32-u4820G>A
NM_004260.3:c.-42-u4810G>A
NM_001001795.1:c.*1123+d3583G>A
NM_014665.1:c.*1158C>T
NM_014665.2:c.*1158C>T
NM_001024678.2:c.1381G>A
NP_001019849.2:p.Glu461Lys
NC_000008.9:g.145718828C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh388144,522,636 - 144,522,636CLINVAR
GRCh378145,748,020 - 145,748,020CLINVAR
Build 368145,718,828 - 145,718,828CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8632907
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.