SI c.4397_4400del ;(p.P1466Lfs*15)

Variant ID: 3-164724609-AGTAG-A

NM_001041.3(SI):c.4397_4400del;(p.P1466Lfs*15)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine
Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H
Publication Date: 2021-09

Variant appearance in text: SI: 4395_4398del
PubMed Link: 34405951
Variant Present in the following documents:
View BVdb publication page



DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Plos One
Xia, Hong H; Huang, Xiangjun X; Deng, Sheng S; Xu, Hongbo H; Yang, Yan Y; Liu, Xin X; Yuan, Lamei L; Deng, Hao H
Publication Date: 2021

Variant appearance in text: SI: 4395_4398del
PubMed Link: 34133440
Variant Present in the following documents:
  • Main text
  • pone.0252786.pdf
View BVdb publication page