Variant (rsID / SNP)
rs62636522
rs62636522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFL. Location: chromosome 8, position 24,813,391. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NEFLConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:24813391
- Cytoband
- 8p21.2
- HGVS
- NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
- Allele change
- Missense_I213M
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.