Variant (rsID / SNP)

rs62636503

rs62636503 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFL. Location: chromosome 8, position 24,811,293. Clinical significance in the table: Pathogenic.

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Reference-table entries

NEFLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:24811293
Cytoband: 8p21.2
HGVS: NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)
Allele change: Missense_E396K

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.