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PKD1 c.7546C>T ;(p.R2516C)
Variant ID: 16-2156249-G-A
NM_001009944.2(
PKD1
):c.7546C>T;(p.R2516C)
This variant was identified in 3 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: R2516C
PubMed Link:
37214819
Variant Present in the following documents:
media-1.xlsx, sheet 3
media-1.xlsx, sheet 2
View BVdb publication page
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Scientific Reports
Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C
Publication Date: 2019-11-18
Variant appearance in text: PKD1: 7546C>T; Arg2516Cys
PubMed Link:
31740684
Variant Present in the following documents:
41598_2019_52474_MOESM1_ESM.pdf
View BVdb publication page
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Plos One
Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y
Publication Date: 2015
Variant appearance in text: PKD1: 7546C>T; R2516C
PubMed Link:
26274329
Variant Present in the following documents:
Main text
pone.0133636.pdf
View BVdb publication page