PKHD1 c.7091T>A ;(p.I2364N)

Variant ID: 6-51751949-A-T

NM_138694.3(PKHD1):c.7091T>A;(p.I2364N)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

IPNA 2022 - Abstract Book.

Pediatric Nephrology (Berlin, Germany)
Publication Date: 2023-04-20

Variant appearance in text: ARPKD: 7091T>A
PubMed Link: 37079101
Variant Present in the following documents:
  • 467_2022_Article_5865.pdf
View BVdb publication page


Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: PKHD1: I2364N
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
View BVdb publication page