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Variant : CV379526 (NM_004606.4(TAF1):c.2144T>C (p.Val715Ala)) Homo sapiens

Symbol: CV379526
Name: NM_004606.4(TAF1):c.2144T>C (p.Val715Ala)
Condition: not specified [RCV000435318]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2016
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_004606.4:c.2144T>C
NG_012771.2:g.22835T>C
NC_000023.11:g.71384098T>C
NC_000023.10:g.70603948T>C
NM_004606.3:c.2144T>C
NP_004597.2:p.Val715Ala
NR_104395.1:n.2220T>C
NR_104391.1:n.2220T>C
NR_104392.1:n.2220T>C
NR_104393.1:n.2220T>C
NR_104394.1:n.2220T>C
NM_001286074.1:c.2144T>C
NR_104387.2:n.2102T>C
NR_104388.1:n.2220T>C
NR_104389.1:n.2220T>C
NR_104390.1:n.2220T>C
NP_001273003.1:p.Val715Ala
NM_138923.3:c.2081T>C
NP_620278.1:p.Val694Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,384,098 - 71,384,098CLINVAR
GRCh37X70,603,948 - 70,603,948CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12842939
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-10-08
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.