Variant (rsID / SNP)
rs398124172
rs398124172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,499,783. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NEBPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:152499783
- Cytoband
- 2q23.3
- HGVS
- NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
Associated conditions / phenotypes
Nemaline myopathy 2|Nemaline myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.