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PKD1 c.8495A>G ;(p.N2832S)
Variant ID: 16-2153563-T-C
NM_001009944.2(
PKD1
):c.8495A>G;(p.N2832S)
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:
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.
Frontiers In Oncology
Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q
Publication Date: 2022
Variant appearance in text: PKD1: 8495A>G; Asn2832Ser
PubMed Link:
35372080
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page