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PKD1 c.6781del ;(p.E2261Rfs*53)
Variant ID: 16-2158387-TC-T
NM_001009944.2(
PKD1
):c.6781del;(p.E2261Rfs*53)
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 mutations in Chinese Hans with autosomal dominant polycystic kidney disease.
Bmc Medical Genetics
Yu, Chaowen C; Yang, Yuan Y; Zou, Lin L; Hu, Zhangxue Z; Li, Jing J; Liu, Yunqiang Y; Ma, Yongxin Y; Ma, Mingyi M; Su, Dan D; Zhang, Sizhong S
Publication Date: 2011-12-20
Variant appearance in text: PKD1: 6781delG; Glu2261Argfs*53
PubMed Link:
22185115
Variant Present in the following documents:
Main text
1471-2350-12-164.pdf
View BVdb publication page