Variant (rsID / SNP)
rs41298135
rs41298135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,869,378. Clinical significance in the table: Likely benign.
Reference-table entries
MYO7ALikely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76869378
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
- Allele change
- Missense_R302H
Associated conditions / phenotypes
Usher syndrome type 1B|Autosomal dominant nonsyndromic hearing loss 11|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Usher syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
