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Variant : CV613279 (NM_004606.4(TAF1):c.1606G>A (p.Asp536Asn)) Homo sapiens

Symbol: CV613279
Name: NM_004606.4(TAF1):c.1606G>A (p.Asp536Asn)
Condition: not provided [RCV000762652]
Clinical Significance: uncertain significance
Last Evaluated: 09/30/2018
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): NR_104395.1:n.1682G>A
NP_620278.1:p.Asp515Asn
NM_001286074.1:c.1606G>A
NR_104387.2:n.1564G>A
NR_104388.1:n.1682G>A
NR_104389.1:n.1682G>A
NR_104390.1:n.1682G>A
NR_104391.1:n.1682G>A
NR_104392.1:n.1682G>A
NR_104393.1:n.1682G>A
NM_004606.4:c.1606G>A
NG_012771.2:g.21281G>A
NC_000023.11:g.71382544G>A
NP_004597.2:p.Asp536Asn
NC_000023.10:g.70602394G>A
NM_138923.3:c.1543G>A
NR_104394.1:n.1682G>A
NP_001273003.1:p.Asp536Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,382,544 - 71,382,544CLINVAR
GRCh37X70,602,394 - 70,602,394CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14397408
Created: 2019-04-09
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.