Variant (rsID / SNP)

rs151226355

rs151226355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,285,088. 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: 2:220285088
Cytoband: 2q35
HGVS: NM_001927.4(DES):c.735+20C>T
Allele change: Silent

Associated conditions / phenotypes

Myofibrillar myopathy|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.