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Variant (rsID / SNP)

rs144415484

EYA4

rs144415484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA4. Location: chromosome 6, position 133,802,609. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EYA4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:133802609
Cytoband
6q23.2
HGVS
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
Allele change
Missense_D304N

Associated conditions / phenotypes

Cardiovascular phenotype|Dilated cardiomyopathy 1J

Public references

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