Variant (rsID / SNP)
rs267607486
rs267607486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,285,068. 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
- 2:220285068
- Cytoband
- 2q35
- HGVS
- NM_001927.4(DES):c.735G>C (p.Glu245Asp)
- Allele change
- Missense_E245D
Associated conditions / phenotypes
Dilated cardiomyopathy 1I|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.