PKD1 c.6965C>T ;(p.T2322M)

Variant ID: 16-2157984-G-A

NM_001009944.2(PKD1):c.6965C>T;(p.T2322M)

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:

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

Plos One
Obeidova, Lena L; Seeman, Tomas T; Fencl, Filip F; Blahova, Kveta K; Hojny, Jan J; Elisakova, Veronika V; Reiterova, Jana J; Stekrova, Jitka J
Publication Date: 2020

Variant appearance in text: PKD1: Thr2322Met; rs564570407
PubMed Link: 32574212
Variant Present in the following documents:
  • Main text
  • pone.0235071.pdf
View BVdb publication page