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PKD1 c.7866C>A ;(p.Y2622*)
Variant ID: 16-2155473-G-T
NM_001009944.2(
PKD1
):c.7866C>A;(p.Y2622*)
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: Tyr2622Ter
PubMed Link:
32203225
Variant Present in the following documents:
Main text
41436_2020_Article_772.pdf
View BVdb publication page