Variant (rsID / SNP)
rs878854368
rs878854368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,502,654. Clinical significance in the table: Pathogenic.
Reference-table entries
NEBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:152502654
- Cytoband
- 2q23.3
- HGVS
- NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
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.