FAM161A homepage - Eye diseases - LOVD - Leiden Open Variation Database

Eye diseases - LOVD

family with sequence similarity 161, member A (FAM161A)

LOVD v.2.0 Build 35 [ Current LOVD status ]
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Curator: Jacopo Celli

FAM161A homepage

General information
Gene name	family with sequence similarity 161, member A
Gene symbol	FAM161A
Chromosome Location	2p15
Database location	grenada.lumc.nl
Curator	Jacopo Celli
PubMed references	View all (unique) PubMed references in the FAM161A database
Date of creation	November 24, 2010
Last update	May 18, 2012
Version	FAM161A120518
Add sequence variant	Submit a sequence variant
First time submitters	Register here
Reference sequence file	Genomic reference sequence for describing sequence variants
Genomic refseq ID	NC_000002.11
Transcript refseq ID	NM_032180.2
Exon/intron information	Exon/intron information table
Total number of unique DNA variants reported	15
Total number of individuals with variant(s)	19
Total number of variants reported	23
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Graphical displays and utilities
Summary tables	Summary of all sequence variants in the FAM161A database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker	The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser	Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants	Listing of all unique sequence variants in the FAM161A database, without patient data
Complete sequence variant listing	Listing of all sequence variants in the FAM161A database
Variants with no known pathogenicity	Listing of all FAM161A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant	View all sequence variants of a certain type
Simple search	Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search	Query the database by selecting a combination of variables
Based on patient origin	View all variants based on your patient origin search terms
Search through hidden entries	Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC	25808
Entrez Gene	84140
OMIM - Gene	613596
OMIM - Disease	Retinitis pigmentosa
UniProtKB (SwissProt/TrEMBL)	Q3B820
External link	Orphanet