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Variant (rsID / SNP)

rs370239228

DES

rs370239228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,284,975. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DESConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:220284975
Cytoband
2q35
HGVS
NM_001927.4(DES):c.642C>T (p.Asp214=)
Allele change
Synonymous_D214D

Associated conditions / phenotypes

Desmin-related myofibrillar myopathy|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type

Public references

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