Variant (rsID / SNP)
rs144909486
rs144909486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,022,168. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYO15AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:18022168
- Cytoband
- 17p11.2
- HGVS
- NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
- Allele change
- Synonymous_K18K
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
