PKD1 c.11723T>C ;(p.L3908P)

Variant ID: 16-2141165-A-G

NM_001009944.2(PKD1):c.11723T>C;(p.L3908P)

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:

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics.

Frontiers In Genetics
de Fallois, Jonathan J; Schönauer, Ria R; Münch, Johannes J; Nagel, Mato M; Popp, Bernt B; Halbritter, Jan J
Publication Date: 2021

Variant appearance in text: PKD1: 11723T>C; Leu3908Pro
PubMed Link: 34249099
Variant Present in the following documents:
  • Main text
  • fgene-12-682565.pdf
View BVdb publication page