The EYA1 gene homepage

General information
Gene symbol EYA1
Gene name eyes absent homolog 1 (Drosophila)
Chromosome 8
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_011735.3
Transcript reference NM_000503.4
Exon/intron information NM_000503.4 exon/intron table
Associated with diseases BOR-1, BOS-1, ID, OTFCS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 246
Unique public DNA variants reported 216
Individuals with public variants 208
Hidden variants 10
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 08, 2021
Version EYA1:210208

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_000503.4.
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/EYA1
HGNC 3519
Entrez Gene 2138
PubMed articles EYA1
OMIM - Gene 601653
OMIM - Diseases BOR-1 (branchiootorenal syndrome, with/without cataract, type 1 (BOR-1))
BOS-1 (branchiootic syndrome, type 1 (BOS-1))
OTFCS (otofaciocervical syndrome (OTFCS))
HGMD EYA1
GeneCards EYA1
GeneTests EYA1
Orphanet EYA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025538 8 transcript variant 3 NM_000503.4 NP_000494.2 246


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