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PKD1 c.12419G>A ;(p.W4140*)
Variant ID: 16-2140311-C-T
NM_001009944.2(
PKD1
):c.12419G>A;(p.W4140*)
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: W4140X
PubMed Link:
37214819
Variant Present in the following documents:
media-1.xlsx, sheet 3
media-1.xlsx, sheet 2
View BVdb publication page
The landscape of driver mutations in cutaneous squamous cell carcinoma.
Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16
Variant appearance in text: PKD1: W4140*
PubMed Link:
34272401
Variant Present in the following documents:
41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page