Variant (rsID / SNP)
rs111033285
rs111033285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,869,472. Clinical significance in the table: Pathogenic.
Reference-table entries
MYO7APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76869472
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
- Allele change
- Nonsense_Y333X
Associated conditions / phenotypes
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 2|Retinal dystrophy|Usher syndrome type 1B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.