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PKD1 c.9923+1G>T
Variant ID: 16-2149861-C-A
NM_001009944.2(
PKD1
):c.9923+1G>T
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Polygenic risk affects the penetrance of monogenic kidney disease.
Medrxiv : The Preprint Server For Health Sciences
Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K
Publication Date: 2023-05-10
Variant appearance in text: PKD1: 9923+1G>T
PubMed Link:
37214819
Variant Present in the following documents:
media-1.xlsx, sheet 3
media-1.xlsx, sheet 2
View BVdb publication page
Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mallawaarachchi, Amali C AC; Furlong, Timothy J TJ; Shine, John J; Harris, Peter C PC; Cowley, Mark J MJ
Publication Date: 2019-06
Variant appearance in text: PKD1: 9923+1G>T
PubMed Link:
30369598
Variant Present in the following documents:
Main text
View BVdb publication page