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Variant (rsID / SNP)

rs148647933

EYA1

rs148647933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,184,069. 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
8:72184069
Cytoband
8q13.3
HGVS
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)
Allele change
Missense_R175Q

Associated conditions / phenotypes

Branchiootic syndrome 1|Otofaciocervical syndrome 1|Branchiootorenal syndrome 1

Public references

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