PKD1 c.2319A>T ;(p.A773=)

Variant ID: 16-2164705-T-A

NM_001009944.2(PKD1):c.2319A>T;(p.A773=)

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:

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Schönauer, Ria R; Baatz, Sebastian S; Nemitz-Kliemchen, Melanie M; Frank, Valeska V; Petzold, Friederike F; Sewerin, Sebastian S; Popp, Bernt B; Münch, Johannes J; Neuber, Steffen S; Bergmann, Carsten C; Halbritter, Jan J
Publication Date: 2020-08

Variant appearance in text: PKD1: Ala773=
PubMed Link: 32398770
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_816.pdf
View BVdb publication page