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Variant : CV273445 (NM_004606.4(TAF1):c.32C>T (p.Thr11Ile)) Homo sapiens

Symbol: CV273445
Name: NM_004606.4(TAF1):c.32C>T (p.Thr11Ile)
Condition: not specified [RCV000315951]
Clinical Significance: benign
Last Evaluated: 07/21/2016
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_104394.1:n.108C>T
NM_004606.4:c.32C>T
NG_012771.2:g.5083C>T
NC_000023.11:g.71366346C>T
NC_000023.10:g.70586196C>T
NP_004597.2:p.Thr11Ile
NM_001286074.1:c.32C>T
NM_138923.3:c.32C>T
NR_104388.1:n.108C>T
NR_104392.1:n.108C>T
NP_620278.1:p.Thr11Ile
NR_104389.1:n.108C>T
NR_104390.1:n.108C>T
NR_104391.1:n.108C>T
NR_104393.1:n.108C>T
NR_104395.1:n.108C>T
NP_001273003.1:p.Thr11Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,366,346 - 71,366,346CLINVAR
GRCh37X70,586,196 - 70,586,196CLINVAR
Cytogenetic MapXXq13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11639137
Created: 2017-01-11
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.