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Variant : CV90326 (NM_001362.3(DIO3):c.536C>T (p.Ala179Val)) Homo sapiens

Symbol: CV90326
Name: NM_001362.3(DIO3):c.536C>T (p.Ala179Val)
Condition: Malignant melanoma [RCV000070424]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: DIO3   MIR1247  
Variant Type: single nucleotide variant (SO:0001636)
Source: CLINVAR
Molecular Consequence: missense|2kb upstream variant
Evidence: literature only|not provided
HGVS Name(s): NC_000014.7:g.101098122C>T
NC_000014.9:g.101562032C>T
NC_000014.8:g.102028369C>T
NR_031649.1:c.1-u1610G>A
XM_001133221.2:c.-138-u3256G>A
NM_001362.3:c.458C>T
NM_001362.3:c.536C>T
NP_001353.4:p.Ala179Val
NR_031649.1:n.-1610G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3814101,562,032 - 101,562,032CLINVAR
GRCh3714102,028,369 - 102,028,369CLINVAR
Build 3614101,098,122 - 101,098,122CLINVAR
Cytogenetic Map1414q32.31CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8635104
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.