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Variant (rsID / SNP)

rs150974575

DES

rs150974575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,288,539. 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
2:220288539
Cytoband
2q35
HGVS
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
Allele change
Nonsense_R429X

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Desmin-related myofibrillar myopathy|Neuromuscular disease|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.