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Variant : CV83495 (NM_000164.2(GIPR):c.616C>T (p.Leu206Phe)) Homo sapiens

Symbol: CV83495
Name: NM_000164.2(GIPR):c.616C>T (p.Leu206Phe)
Condition: Malignant melanoma [RCV000063576]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: GIPR   MIR642A   MIR642B  
Variant Type: single nucleotide variant (SO:0001636)
Source: CLINVAR
Molecular Consequence: missense|missense variant|2kb upstream variant
Evidence: literature only|not provided
HGVS Name(s): NC_000019.8:g.50869907C>T
NM_000164.2:c.616C>T
NC_000019.10:g.45674809C>T
NC_000019.9:g.46178067C>T
NR_037512.1:c.77+d123G>A
NR_030372.1:c.1-u119C>T
NP_000155.1:p.Leu206Phe
NR_030372.1:n.-119C>T
NR_037512.1:n.200G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381945,674,809 - 45,674,809CLINVAR
GRCh371946,178,067 - 46,178,067CLINVAR
Build 361950,869,907 - 50,869,907CLINVAR
Cytogenetic Map1919q13.32CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8628351
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.