Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV360680 (NM_004606.4(TAF1):c.5531A>G (p.Tyr1844Cys)) Homo sapiens

Symbol: CV360680
Name: NM_004606.4(TAF1):c.5531A>G (p.Tyr1844Cys)
Condition: not specified [RCV000414154]
Clinical Significance: uncertain significance
Last Evaluated: 12/13/2016
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_138923.3:c.5468A>G
NM_001286074.1:c.5537A>G
NM_004606.4:c.5531A>G
NG_012771.2:g.102632A>G
NC_000023.11:g.71463895A>G
NC_000023.10:g.70683745A>G
NM_004606.3:c.5531A>G
NP_004597.2:p.Tyr1844Cys
NP_620278.1:p.Tyr1823Cys
NP_001273003.1:p.Tyr1846Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,463,895 - 71,463,895CLINVAR
GRCh37X70,683,745 - 70,683,745CLINVAR
Cytogenetic MapXXq13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12741121
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.