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Variant (rsID / SNP)

rs75133151

EYA4

rs75133151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA4. Location: chromosome 6, position 133,789,804. 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
6:133789804
Cytoband
6q23.2
HGVS
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp)
Allele change
Missense_G279D

Associated conditions / phenotypes

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

Public references

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