Variant (rsID / SNP)
rs41298133
rs41298133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,868,015. Clinical significance in the table: Pathogenic.
Reference-table entries
MYO7APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76868015
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
- Allele change
- Nonsense_Q234X
Associated conditions / phenotypes
Usher syndrome type 1B|Rare genetic deafness|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.