Variant (rsID / SNP)

rs267607495

rs267607495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,283,219. 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: 2:220283219
Cytoband: 2q35
HGVS: NM_001927.4(DES):c.35C>T (p.Ser12Phe)
Allele change: Missense_S12F

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Neuromuscular disease|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.