PKD1 c.4412_4415del ;(p.I1471Rfs*62)

Variant ID: 16-2160752-CTTGA-C

NM_001009944.2(PKD1):c.4412_4415del;(p.I1471Rfs*62)

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:

Expression and secretion of CXCL12 are enhanced in autosomal dominant polycystic kidney disease.

Bmb Reports
Kim, Hyunho H; Sung, Jinmo J; Kim, Hyunsuk H; Ryu, Hyunjin H; Cho Park, Hayne H; Oh, Yun Kyu YK; Lee, Hyun-Seob HS; Oh, Kook-Hwan KH; Ahn, Curie C
Publication Date: 2019-07

Variant appearance in text: PKD1: 4412_4415delTCAA; I1471RfsX62
PubMed Link: 31186083
Variant Present in the following documents:
  • Main text
  • bmb-52-463.pdf
View BVdb publication page