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Variant (rsID / SNP)

rs267607490

DES

rs267607490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,290,456. 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
2:220290456
Cytoband
2q35
HGVS
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
Allele change
Missense_R454W

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Desmin-related myofibrillar myopathy|Primary dilated cardiomyopathy|Neuromuscular disease

Public references

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