Variant (rsID / SNP)
rs372169216
rs372169216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,462,778. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYO3AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:26462778
- Cytoband
- 10p12.1
- HGVS
- NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
- Allele change
- Synonymous_V1195V
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
