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.




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