DNAH11 c.5368G>T ;(p.E1790*)

Variant ID: 7-21721203-G-T

NM_001277115.1(DNAH11):c.5368G>T;(p.E1790*)

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:

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Truty, Rebecca R; Paul, Joshua J; Kennemer, Michael M; Lincoln, Stephen E SE; Olivares, Eric E; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-01

Variant appearance in text: DNAH11: 5368G>T
PubMed Link: 29895855
Variant Present in the following documents:
  • 41436_2018_33_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page