Variant (rsID / SNP)
rs763258280
rs763258280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNE. Location: chromosome 17, position 4,802,186. Clinical significance in the table: Pathogenic.
Reference-table entries
CHRNEPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:4802186
- Cytoband
- 17p13.2
- HGVS
- NM_000080.4(CHRNE):c.1327del
Associated conditions / phenotypes
Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4B|Congenital myasthenic syndrome 4B|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4C
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.