View 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_011735.1
Transcript reference NM_000503.4, NM_172058.2
Associated with diseases BOR-1, BOS-1, ID, OTFCS
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 1
Individuals with public variants 2
Hidden variants 0
Date created May 03, 2013
Date last updated October 02, 2013
Version EYA1:131002

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
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))

Active transcripts




NCBI ID     

NCBI Protein ID     

00023836 8 transcript variant 2 NM_172058.2 NP_742055.1 2
00007325 8 transcript variant 3 NM_000503.4 NP_000494.2 0