TG c.2639del ;(p.P880Rfs*86)

Variant ID: 8-133900688-AC-A

NM_003235.4(TG):c.2639del;(p.P880Rfs*86)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease.

Bmc Medical Genetics
Ge, Ting T; Zhang, Xinyue X; Xiao, Yongmei Y; Wang, Yizhong Y; Zhang, Ting T
Publication Date: 2019-01-18

Variant appearance in text: TG: 2639delC
PubMed Link: 30658709
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_753.pdf
View BVdb publication page