Variant (rsID / SNP)

rs121909195

rs121909195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,184,037. Clinical significance in the table: Pathogenic.

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Reference-table entries

EYA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:72184037
Cytoband: 8q13.3
HGVS: NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)
Allele change: Nonsense_R186X

Associated conditions / phenotypes

Branchiootorenal syndrome 1|Rare genetic deafness|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.