PKD1 c.2478del ;(p.I827Sfs*71)

Variant ID: 16-2164546-TG-T

NM_001009944.2(PKD1):c.2478del;(p.I827Sfs*71)

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:

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E
Publication Date: 2014-09

Variant appearance in text: PKD1: 2478delC
PubMed Link: 25333066
Variant Present in the following documents:
  • Main text
  • mgg30002-0412.pdf
View BVdb publication page