Variant (rsID / SNP)

rs1058261

rs1058261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,285,309. Clinical significance in the table: Benign.

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Reference-table entries

DESBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:220285309
Cytoband: 2q35
HGVS: NM_001927.4(DES):c.828C>T (p.Asp276=)
Allele change: Synonymous_D276D

Associated conditions / phenotypes

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