Variant (rsID / SNP)
rs28928910
rs28928910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFL. Location: chromosome 8, position 24,813,966. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NEFLPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:24813966
- Cytoband
- 8p21.2
- HGVS
- NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
- Allele change
- Missense_P22S
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease type 1C|Peripheral demyelination|Distal muscle weakness|Peripheral neuropathy|Hand muscle atrophy|Decreased nerve conduction velocity|Peripheral neuropathy|Pes cavus|Distal lower limb muscle weakness|Charcot-Marie-Tooth disease type 1F
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.