DNAH11 c.13165A>G ;(p.I4389V)

Variant ID: 7-21939600-A-G

NM_001277115.1(DNAH11):c.13165A>G;(p.I4389V)

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:

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18

Variant appearance in text: DNAH11: 13165A>G; Ile4389Val
PubMed Link: 35304488
Variant Present in the following documents:
  • 41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page