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PKD1 c.10397C>G ;(p.S3466*)
Variant ID: 16-2147328-G-C
NM_001009944.2(
PKD1
):c.10397C>G;(p.S3466*)
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:
Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.
Molecular Cancer
Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L
Publication Date: 2021-02-23
Variant appearance in text: PKD1: 10397C>G; Ser3466*
PubMed Link:
33622313
Variant Present in the following documents:
12943_2021_1331_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
Bmc Medical Genetics
He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J
Publication Date: 2018-10-17
Variant appearance in text: PKD1: 10397C>G; Ser3466*
PubMed Link:
30333007
Variant Present in the following documents:
Main text
12881_2018_Article_693.pdf
View BVdb publication page