Variant (rsID / SNP)
rs111033239
rs111033239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,900,417. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYO7APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:76900417
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.3532del (p.Gln1178fs)
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.