PKD1 c.6091del ;(p.V2031Wfs*85)

Variant ID: 16-2159077-AC-A

NM_001009944.2(PKD1):c.6091del;(p.V2031Wfs*85)

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:

Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease.

Annals Of Translational Medicine
Wang, Jiaru J; Yang, Huayu H; Guo, Ruohan R; Sang, Xinting X; Mao, Yilei Y
Publication Date: 2021-01

Variant appearance in text: PKD1: 6091delG
PubMed Link: 33569422
Variant Present in the following documents:
  • Main text
  • atm-09-02-120.pdf
View BVdb publication page