DNAH11 c.5367del ;(p.E1790Nfs*11)

Variant ID: 7-21721202-GA-G

NM_001277115.1(DNAH11):c.5367del;(p.E1790Nfs*11)

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:

Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing.

Yonsei Medical Journal
Cho, Eun Hye EH; Ki, Chang Seok CS; Yun, Sun Ae SA; Kim, Su Young SY; Jhun, Byung Woo BW; Koh, Won Jung WJ; Huh, Hee Jae HJ; Lee, Nam Yong NY
Publication Date: 2021-03

Variant appearance in text: DNAH11: 5367del
PubMed Link: 33635012
Variant Present in the following documents:
  • ymj-62-224.pdf
View BVdb publication page