Variant (rsID / SNP)

rs58687088

rs58687088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,286,134. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DESUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Microsatellite
Chromosome / position: 2:220286134
Cytoband: 2q35
HGVS: NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)

Associated conditions / phenotypes

Desmin-related myofibrillar myopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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