Variant (rsID / SNP)
rs11237123
rs11237123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,922,946. Clinical significance in the table: Benign.
Reference-table entries
MYO7ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76922946
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=)
- Allele change
- Synonymous_K2106K
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Autosomal dominant nonsyndromic hearing loss 11|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.
