Variant (rsID / SNP)
rs58982919
rs58982919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFL. Location: chromosome 8, position 24,813,737. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:24813737
- Cytoband
- 8p21.2
- HGVS
- NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
- Allele change
- Missense_N98S
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease type 2E|Sensorineural hearing loss disorder|Developmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.