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Variant (rsID / SNP)

rs121913003

DES

rs121913003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,286,254. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DESPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:220286254
Cytoband
2q35
HGVS
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
Allele change
Missense_R406W

Associated conditions / phenotypes

Desmin-related myofibrillar myopathy|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.