Variant (rsID / SNP)

rs77825059

rs77825059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,211,326. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EYA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:72211326
Cytoband: 8q13.3
HGVS: NM_000503.6(EYA1):c.782C>T (p.Pro261Leu)
Allele change: Missense_P139L

Associated conditions / phenotypes

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

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.