Variant: rs1554577402

present in Gene: ESRP1 present in Chromosome: 8 Position on Chromosome: 94664946 Alleles of this Variant: C/G

rs1554577402 in ESRP1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 109 PMID 29107558 2017 ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.