Variant (rsID / SNP)

rs9493627

rs9493627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA4. Location: chromosome 6, position 133,789,728. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EYA4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:133789728
Cytoband: 6q23.2
HGVS: NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
Allele change: Missense_G254S

Associated conditions / phenotypes

Cardiovascular phenotype|Dilated cardiomyopathy 1J|Autosomal dominant nonsyndromic hearing loss 10

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.