Variant (rsID / SNP)
rs111033238
rs111033238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,867,813. Clinical significance in the table: Pathogenic.
Reference-table entries
MYO7APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:76867813
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.582del (p.Ile195fs)
Associated conditions / phenotypes
Rare genetic deafness
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.