Variant (rsID / SNP)
rs74720958
rs74720958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA1. Location: chromosome 8, position 72,267,106. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
EYA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:72267106
- Cytoband
- 8q13.3
- HGVS
- NM_000503.6(EYA1):c.35G>A (p.Arg12His)
- Allele change
- Silent
Associated conditions / phenotypes
Otofaciocervical 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.