PKD1 c.651del ;(p.G218Afs*72)

Variant ID: 16-2168341-CG-C

NM_001009944.2(PKD1):c.651del;(p.G218Afs*72)

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:

Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tolusso, Leandra K LK; Hazelton, Paige P; Wong, Beatrix B; Swarr, Daniel T DT
Publication Date: 2021-05

Variant appearance in text: PKD1: 651del; Gly218Alafs*72
PubMed Link: 33442022
Variant Present in the following documents:
  • Main text
View BVdb publication page