FAM161A gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol FAM161A
Gene name family with sequence similarity 161, member A
Chromosome 2
Chromosomal band p15
Imprinted Unknown
Genomic reference NG_028125.1
Transcript reference NM_001201543.1, NM_032180.2
Exon/intron information NM_001201543.1 exon/intron table
Associated with diseases RP28
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 129
Unique public DNA variants reported 63
Individuals with public variants 737
Hidden variants 10
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created November 24, 2010
Date last updated March 23, 2020
Version FAM161A:200323

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_001201543.1.
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 https://www.LOVD.nl/FAM161A
External URL Orphanet
HGNC 25808
Entrez Gene 84140
PubMed articles FAM161A
OMIM - Gene 613596
OMIM - Diseases RP28 (retinitis pigmentosa, type 28 (RP28))
GeneCards FAM161A
GeneTests FAM161A

Active transcripts




NCBI ID     

NCBI Protein ID     

00007613 2 transcript variant 2 NM_032180.2 NP_115556.2 122
00024224 2 transcript variant 1 NM_001201543.1 NP_001188472.1 76

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2020. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.