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Variant (rsID / SNP)

rs201504674

EYA1

rs201504674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,184,094. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EYA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:72184094
Cytoband
8q13.3
HGVS
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
Allele change
Missense_D167Y

Associated conditions / phenotypes

Otofaciocervical syndrome 1|Branchiootic syndrome 1|Hearing impairment|Melnick-Fraser syndrome

Public references

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