DNAH11 c.13171C>T ;(p.Q4391*)

Variant ID: 7-21939606-C-T

NM_001277115.1(DNAH11):c.13171C>T;(p.Q4391*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Molecular Autism
Griswold, Anthony J AJ; Dueker, Nicole D ND; Van Booven, Derek D; Rantus, Joseph A JA; Jaworski, James M JM; Slifer, Susan H SH; Schmidt, Michael A MA; Hulme, William W; Konidari, Ioanna I; Whitehead, Patrice L PL; Cuccaro, Michael L ML; Martin, Eden R ER; Haines, Jonathan L JL; Gilbert, John R JR; Hussman, John P JP; Pericak-Vance, Margaret A MA
Publication Date: 2015

Variant appearance in text: DNAH11: Q4391X
PubMed Link: 26185613
Variant Present in the following documents:
  • 13229_2015_34_MOESM3_ESM.xlsx, sheet 1
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