PKD1 c.12155_12156del ;(p.V4052Gfs*104)

Variant ID: 16-2140573-CCA-C

NM_001009944.2(PKD1):c.12155_12156del;(p.V4052Gfs*104)

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 novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Choi, Rihwa R; Park, Hayne Cho HC; Lee, Kyunghoon K; Lee, Myoung-Gun MG; Kim, Jong-Won JW; Ki, Chang-Seok CS; Hwang, Young-Hwan YH; Ahn, Curie C
Publication Date: 2014-12-10

Variant appearance in text: PKD1: 12155_12156delTG; Val4052Glyfs*104
PubMed Link: 25491204
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_129.pdf
View BVdb publication page