Variant (rsID / SNP)
rs184435771
rs184435771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,058,028. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYO15APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:18058028
- Cytoband
- 17p11.2
- HGVS
- NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
- Allele change
- Missense_R2728H
Associated conditions / phenotypes
Rare genetic deafness|Inborn genetic diseases|Autosomal recessive nonsyndromic hearing loss 3|Hearing impairment
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
