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

Variant : CV422513 (NM_004606.4(TAF1):c.104C>T (p.Pro35Leu)) Homo sapiens

Symbol: CV422513
Name: NM_004606.4(TAF1):c.104C>T (p.Pro35Leu)
Condition: not specified [RCV000492916]
Clinical Significance: uncertain significance
Last Evaluated: 05/01/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_004606.4:c.104C>T
NG_012771.2:g.5155C>T
NC_000023.11:g.71366418C>T
NC_000023.10:g.70586268C>T
NM_004606.3:c.104C>T
NP_004597.2:p.Pro35Leu
NM_001286074.1:c.104C>T
NM_138923.3:c.104C>T
NR_104387.2:n.62C>T
NR_104388.1:n.180C>T
NR_104389.1:n.180C>T
NR_104390.1:n.180C>T
NR_104391.1:n.180C>T
NR_104392.1:n.180C>T
NR_104393.1:n.180C>T
NR_104394.1:n.180C>T
NR_104395.1:n.180C>T
NP_001273003.1:p.Pro35Leu
NP_620278.1:p.Pro35Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,366,418 - 71,366,418CLINVAR
GRCh37X70,586,268 - 70,586,268CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12912703
Created: 2017-07-11
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.