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Variant (rsID / SNP)

rs199972656

DES

rs199972656 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,283,202. 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
2:220283202
Cytoband
2q35
HGVS
NM_001927.4(DES):c.18G>A (p.Ser6=)
Allele change
Synonymous_S6S

Associated conditions / phenotypes

Myofibrillar Myopathy, Dominant|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type|Cardiomyopathy|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.