PKD1 c.3984G>C ;(p.W1328C)

Variant ID: 16-2161184-C-G

NM_001009944.2(PKD1):c.3984G>C;(p.W1328C)

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:

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

European Journal Of Human Genetics : Ejhg
Smogavec, Mateja M; Gerykova Bujalkova, Maria M; Lehner, Reinhard R; Neesen, Jürgen J; Behunova, Jana J; Yerlikaya-Schatten, Gülen G; Reischer, Theresa T; Altmann, Reinhard R; Weis, Denisa D; Duba, Hans-Christoph HC; Laccone, Franco F
Publication Date: 2022-04

Variant appearance in text: PKD1: 3984G>C; Trp1328Cys
PubMed Link: 34974531
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_1012.pdf
View BVdb publication page