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PKD1 c.7630A>T ;(p.R2544W)
Variant ID: 16-2156165-T-A
NM_001009944.2(
PKD1
):c.7630A>T;(p.R2544W)
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:
Rare genetic variants in patients with cervical artery dissection.
European Stroke Journal
Traenka, Christopher C; Kloss, Manja M; Strom, Tim T; Lyrer, Philippe P; Brandt, Tobias T; Bonati, Leo H LH; Grond-Ginsbach, Caspar C; Engelter, Stefan S
Publication Date: 2019-12
Variant appearance in text: PKD1: Arg2544Trp
PubMed Link:
31903434
Variant Present in the following documents:
Main text
View BVdb publication page