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Variant : CV446756 (NM_004606.4(TAF1):c.425A>T (p.Asp142Val)) Homo sapiens

Symbol: CV446756
Name: NM_004606.4(TAF1):c.425A>T (p.Asp142Val)
Condition: not specified [RCV000521894]
Clinical Significance: uncertain significance
Last Evaluated: 10/27/2017
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_001286074.1:c.425A>T
NR_104387.2:n.383A>T
NR_104388.1:n.501A>T
NR_104389.1:n.501A>T
NR_104390.1:n.501A>T
NR_104391.1:n.501A>T
NR_104393.1:n.501A>T
NR_104394.1:n.501A>T
NR_104395.1:n.501A>T
NR_104392.1:n.501A>T
NM_004606.4:c.425A>T
NG_012771.2:g.13916A>T
NC_000023.11:g.71375179A>T
NC_000023.10:g.70595029A>T
NM_004606.3:c.425A>T
NP_004597.2:p.Asp142Val
NP_001273003.1:p.Asp142Val
NP_620278.1:p.Asp142Val
NM_138923.3:c.425A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,375,179 - 71,375,179CLINVAR
GRCh37X70,595,029 - 70,595,029CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13482836
Created: 2018-01-09
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.