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PKD1 c.12366G>A ;(p.W4122*)
Variant ID: 16-2140364-C-T
NM_001009944.2(
PKD1
):c.12366G>A;(p.W4122*)
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:
Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.
Frontiers In Endocrinology
Shi, Wei-Hui WH; Zhou, Zhi-Yang ZY; Ye, Mu-Jin MJ; Qin, Ning-Xin NX; Jiang, Zi-Ru ZR; Zhou, Xuan-You XY; Xu, Nai-Xin NX; Cao, Xian-Lin XL; Chen, Song-Chang SC; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2023
Variant appearance in text: PKD1: 12366G>A; Trp4122Ter
PubMed Link:
37152951
Variant Present in the following documents:
Main text
fendo-14-1130536.pdf
View BVdb publication page
The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.
Kidney Diseases (Basel, Switzerland)
Xue, Cheng C; Zhou, Chen-Chen CC; Wu, Ming M; Mei, Chang-Lin CL
Publication Date: 2016-10
Variant appearance in text: PKD1: W4122*
PubMed Link:
27921038
Variant Present in the following documents:
Main text
View BVdb publication page