Variant (rsID / SNP)
rs267607499
rs267607499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,283,531. 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
- 2:220283531
- Cytoband
- 2q35
- HGVS
- NM_001927.4(DES):c.347A>G (p.Asn116Ser)
- Allele change
- Missense_N116S
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.