Variant (rsID / SNP)

rs201509408

rs201509408 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,211,437. 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: 8:72211437
Cytoband: 8q13.3
HGVS: NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
Allele change: Missense_G102V

Associated conditions / phenotypes

Branchiootorenal syndrome 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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