Variant (rsID / SNP)
rs551520922
rs551520922 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,515,688. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NEBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Duplication
- Chromosome / position
- 2:152515688
- Cytoband
- 2q23.3
- HGVS
- NM_001164508.2(NEB):c.5971-6dup
Associated conditions / phenotypes
Nemaline myopathy 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.