PKD1 c.2503_2504delinsGC ;(p.R835A)

Variant ID: 16-2164520-CG-GC

NM_001009944.2(PKD1):c.2503_2504delinsGC;(p.R835A)

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:

Novel GANAB variants associated with polycystic liver disease.

Orphanet Journal Of Rare Diseases
van de Laarschot, Liyanne F M LFM; Te Morsche, René H M RHM; Hoischen, Alexander A; Venselaar, Hanka H; Roelofs, Hennie M HM; Cnossen, Wybrich R WR; Banales, Jesus M JM; Roepman, Ronald R; Drenth, Joost P H JPH
Publication Date: 2020-10-23

Variant appearance in text: PKD1: Arg835Ala
PubMed Link: 33097077
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1585.pdf
View BVdb publication page