Variant (rsID / SNP)
rs606231357
rs606231357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,183,988. Clinical significance in the table: Pathogenic.
Reference-table entries
EYA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:72183988
- Cytoband
- 8q13.3
- HGVS
- NM_000503.6(EYA1):c.966+5G>A
- Allele change
- Silent
Associated conditions / phenotypes
Branchiootorenal syndrome 1|Melnick-Fraser syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.