present in Gene: EYA4
present in Chromosome: 6
Position on Chromosome: 133456594
Alleles of this Variant: A/-
rs1554260888 in
EYA4 gene and
Dysmorphic features
PMID 17567890 2007 Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.
PMID 27142990 2016 Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
PMID 15735644 2005 Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.
rs1554260888 in
EYA4 gene and
Movement Disorders
PMID 27142990 2016 Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
PMID 17567890 2007 Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.
PMID 15735644 2005 Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.