PKD1 c.6010del ;(p.Y2004Tfs*112)

Variant ID: 16-2159158-TA-T

NM_001009944.2(PKD1):c.6010del;(p.Y2004Tfs*112)

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:

Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2020-06

Variant appearance in text: PKD1: Tyr2004Thrfs*112
PubMed Link: 32203225
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_772.pdf
View BVdb publication page