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

Variant : CV492029 (NM_004606.4(TAF1):c.5008T>C (p.Leu1670=)) Homo sapiens

Symbol: CV492029
Name: NM_004606.4(TAF1):c.5008T>C (p.Leu1670=)
Condition: not specified [RCV000597779]
Clinical Significance: uncertain significance
Last Evaluated: 03/31/2017
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NR_104394.1:n.5063T>C
NR_104388.1:n.5084T>C
NR_104389.1:n.5084T>C
NR_104390.1:n.5090T>C
NR_104393.1:n.5090T>C
NR_104392.1:n.5106T>C
NR_104391.1:n.5112T>C
NR_104395.1:n.5115T>C
NM_004606.4:c.5008T>C
NG_012771.2:g.96987T>C
NC_000023.11:g.71458250T>C
NC_000023.10:g.70678100T>C
NP_004597.2:p.Leu1670=
NM_138923.3:c.4945T>C
NM_001286074.1:c.5014T>C
NR_104387.2:n.4966T>C
NP_620278.1:p.Leu1649=
NP_001273003.1:p.Leu1672=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,458,250 - 71,458,250CLINVAR
GRCh37X70,678,100 - 70,678,100CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13519126
Created: 2018-04-10
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.