Variant (rsID / SNP)
rs368341987
rs368341987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,890,889. Clinical significance in the table: Uncertain significance.
Reference-table entries
MYO7AUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76890889
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
- Allele change
- Missense_A826T
Associated conditions / phenotypes
MYO7A-Related Disorders|Autosomal dominant nonsyndromic hearing loss 11|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Usher syndrome|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Autosomal dominant nonsyndromic hearing loss 11|Usher syndrome type 1|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.