Variant (rsID / SNP)
rs201487604
rs201487604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,046,124. 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
- 17:18046124
- Cytoband
- 17p11.2
- HGVS
- NM_016239.4(MYO15A):c.5880C>T (p.His1960=)
- Allele change
- Synonymous_H1960H
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.
