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Variant (rsID / SNP)

rs121909196

EYA1

rs121909196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,128,968. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EYA1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:72128968
Cytoband
8q13.3
HGVS
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)
Allele change
Missense_R318Q

Associated conditions / phenotypes

Branchiootorenal syndrome 1|Rare genetic deafness|Branchiooculofacial syndrome|Melnick-Fraser syndrome|Branchiootic syndrome 1

Public references

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