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

Variant : CV446758 (NM_004606.4(TAF1):c.4111C>T (p.Leu1371Phe)) Homo sapiens

Symbol: CV446758
Name: NM_004606.4(TAF1):c.4111C>T (p.Leu1371Phe)
Condition: not specified [RCV000519999]
Clinical Significance: uncertain significance
Last Evaluated: 08/21/2017
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.4187C>T
NR_104395.1:n.4187C>T
NP_620278.1:p.Leu1350Phe
NP_001273003.1:p.Leu1371Phe
NM_001286074.1:c.4111C>T
NR_104387.2:n.4069C>T
NR_104388.1:n.4187C>T
NR_104389.1:n.4187C>T
NR_104390.1:n.4187C>T
NR_104391.1:n.4187C>T
NR_104392.1:n.4187C>T
NR_104393.1:n.4187C>T
NM_004606.3:c.4111C>T
NC_000023.10:g.70626540C>T
NG_012771.2:g.45427C>T
NC_000023.11:g.71406690C>T
NM_004606.4:c.4111C>T
NP_004597.2:p.Leu1371Phe
NM_138923.3:c.4048C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,406,690 - 71,406,690CLINVAR
GRCh37X70,626,540 - 70,626,540CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13475853
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE



NHLBI Logo

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