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PKD1 c.7049_7051del ;(p.E2350del)
Variant ID: 16-2157897-GCCT-G
NM_001009944.2(
PKD1
):c.7049_7051del;(p.E2350del)
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: 7049_7051delAGG; Glu2350del
PubMed Link:
35372080
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page