Variant (rsID / SNP)
rs45629132
rs45629132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,870,496. 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
- 11:76870496
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
- Allele change
- Missense_R336H
Associated conditions / phenotypes
Autosomal dominant nonsyndromic hearing loss 11|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Usher syndrome type 1|Autosomal dominant nonsyndromic hearing loss 11|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1B|Meniere disease|Usher syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.