Variant (rsID / SNP)

rs57639980

rs57639980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,286,072. Clinical significance in the table: Pathogenic.

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Reference-table entries

DESPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:220286072
Cytoband: 2q35
HGVS: NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
Allele change: Missense_L345P

Associated conditions / phenotypes

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.