Variant (rsID / SNP)
rs28934610
rs28934610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,867,950. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYO7APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76867950
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
- Allele change
- Missense_R212H
Associated conditions / phenotypes
Usher syndrome type 1B|Rare genetic deafness|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.