DNAH11 c.6963del ;(p.Q2322Kfs*13)

Variant ID: 7-21751458-CA-C

NM_001277115.1(DNAH11):c.6963del;(p.Q2322Kfs*13)

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:

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Human Mutation
Liu, Juan J; Zheng, Yu Y; Huang, Jiaotian J; Zhu, Desheng D; Zang, Ping P; Luo, Zhenqing Z; Yang, Yongjia Y; Peng, Yu Y; Xiao, Zhenghui Z; Zhu, Yimin Y; Lu, Xiulan X
Publication Date: 2021-11

Variant appearance in text: DNAH11: 6963del
PubMed Link: 34298581
Variant Present in the following documents:
  • HUMU-42-1443.pdf
View BVdb publication page