LOVD 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 October 03, 2013
Version FAM161A131003
Add sequence variant Submit a sequence variant
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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