Variant (rsID / SNP)
rs121913001
rs121913001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,286,216. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
DESPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:220286216
- Cytoband
- 2q35
- HGVS
- NM_001927.4(DES):c.1178A>T (p.Asn393Ile)
- Allele change
- Missense_N393I
Associated conditions / phenotypes
Desmin-related myofibrillar myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.