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Variant (rsID / SNP)

rs139717960

EYA1

rs139717960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,127,864. 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
8:72127864
Cytoband
8q13.3
HGVS
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
Allele change
Missense_S365L

Associated conditions / phenotypes

Branchiootic syndrome 1|Otofaciocervical syndrome 1|Melnick-Fraser syndrome|Developmental cataract

Public references

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