Variant (rsID / SNP)
rs147026993
rs147026993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,870,499. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DNM2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:10870499
- Cytoband
- 19p13.2
- HGVS
- NM_001005361.3(DNM2):c.235+12C>A
- Allele change
- Silent
Associated conditions / phenotypes
Centronuclear myopathy|Autosomal dominant centronuclear myopathy|Charcot-Marie-Tooth disease dominant intermediate B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.