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PKD1 c.12172del ;(p.V4058Wfs*140)
Variant ID: 16-2140558-AC-A
NM_001009944.2(
PKD1
):c.12172del;(p.V4058Wfs*140)
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:
Corrigendum: Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
Scientific Reports
Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2016-02-23
Variant appearance in text: PKD1: 12172delG; Val4058TrpfsX140
PubMed Link:
26902268
Variant Present in the following documents:
srep21578.pdf
View BVdb publication page