The PIH1D3 gene homepage

NOTE: gene name changed from PIH1D3 to DNAAF6
General information
Gene symbol PIH1D3
Gene name PIH1 domain containing 3
Chromosome X
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_001169154.1
Exon/intron information NM_001169154.1 exon/intron table
Associated with diseases CILD36
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 1
Download all this gene's data Download all data
Notes NOTE: gene name changed from PIH1D3 to DNAAF6
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created June 15, 2017
Date last updated July 20, 2020
Version PIH1D3:200720

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001169154.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 28570
Entrez Gene 139212
PubMed articles PIH1D3
OMIM - Gene 300933
OMIM - Diseases CILD36 (Ciliary dyskinesia, primary, 36, X-linked)
GeneCards PIH1D3
GeneTests PIH1D3
Orphanet PIH1D3

Active transcripts




NCBI ID     

NCBI Protein ID     

00024269 X transcript variant 1 NM_001169154.1 NP_001162625.1 2

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2017-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.