Variant (rsID / SNP)
rs187438258
rs187438258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH2. Location: chromosome 17, position 10,429,123. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYH2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:10429123
- Cytoband
- 17p13.1
- HGVS
- NM_017534.6(MYH2):c.4258C>T (p.Leu1420Phe)
- Allele change
- Silent
Associated conditions / phenotypes
Myopathy, proximal, and ophthalmoplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.