Variant (rsID / SNP)
rs41272699
rs41272699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,284,876. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DESConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:220284876
- Cytoband
- 2q35
- HGVS
- NM_001927.4(DES):c.638C>T (p.Ala213Val)
- Allele change
- Missense_A213V
Associated conditions / phenotypes
Congenital diaphragmatic hernia|Myofibrillar myopathy|Cardiovascular phenotype|Myofibrillar Myopathy, Dominant|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type|Desmin-related myofibrillar myopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.