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Variant : CV411476 (NM_004606.4(TAF1):c.1297G>A (p.Asp433Asn)) Homo sapiens

Symbol: CV411476
Name: NM_004606.4(TAF1):c.1297G>A (p.Asp433Asn)
Condition: not specified [RCV000485908]
Clinical Significance: uncertain significance
Last Evaluated: 03/13/2017
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_138923.3:c.1234G>A
NM_001286074.1:c.1297G>A
NR_104387.2:n.1255G>A
NR_104390.1:n.1373G>A
NR_104392.1:n.1373G>A
NP_620278.1:p.Asp412Asn
NR_104391.1:n.1373G>A
NM_004606.4:c.1297G>A
NG_012771.2:g.17645G>A
NC_000023.11:g.71378908G>A
NC_000023.10:g.70598758G>A
NM_004606.3:c.1297G>A
NP_004597.2:p.Asp433Asn
NR_104388.1:n.1373G>A
NR_104389.1:n.1373G>A
NR_104393.1:n.1373G>A
NR_104394.1:n.1373G>A
NR_104395.1:n.1373G>A
NP_001273003.1:p.Asp433Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,378,908 - 71,378,908CLINVAR
GRCh37X70,598,758 - 70,598,758CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12901940
Created: 2017-05-09
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.