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Variant : CV512747 (NM_004606.4(TAF1):c.2833G>A (p.Asp945Asn)) Homo sapiens

Symbol: CV512747
Name: NM_004606.4(TAF1):c.2833G>A (p.Asp945Asn)
Condition: Inborn genetic diseases [RCV000624666]
Clinical Significance: uncertain significance
Last Evaluated: 02/24/2016
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): NR_104389.1:n.2909G>A
NR_104390.1:n.2909G>A
NR_104391.1:n.2909G>A
NR_104392.1:n.2909G>A
NR_104393.1:n.2909G>A
NR_104394.1:n.2909G>A
NR_104395.1:n.2909G>A
NP_004597.2:p.Asp945Asn
NM_004606.4:c.2833G>A
NG_012771.2:g.28394G>A
NM_004606.3:c.2833G>A
NC_000023.10:g.70609507G>A
NC_000023.11:g.71389657G>A
NM_138923.3:c.2770G>A
NM_001286074.1:c.2833G>A
NR_104387.2:n.2791G>A
NP_620278.1:p.Asp924Asn
NP_001273003.1:p.Asp945Asn
NR_104388.1:n.2909G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,389,657 - 71,389,657CLINVAR
GRCh37X70,609,507 - 70,609,507CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13532902
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-10-15
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.