ESRP1 Chromosome 8

Epithelial splicing regulatory protein 1
2 variants 2 Health Risk

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What This Gene Does
ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000104413
Associated Conditions (2)
Hearing loss
autosomal recessive 109
Key Variants
RS1554577339
Pathogenic
Hearing loss, autosomal recessive 109, Hearing loss
Health Risk
RS1554577402
Pathogenic
Hearing loss, autosomal recessive 109, Hearing loss
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS1554577339 Health Risk Pathogenic Hearing loss, autosomal recessive 109, Hearing loss
RS1554577402 Health Risk Pathogenic Hearing loss, autosomal recessive 109, Hearing loss
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