Variant (rsID / SNP)

rs59443585

rs59443585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFL. Location: chromosome 8, position 24,813,035. 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: 8:24813035
Cytoband: 8p21.2
HGVS: NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)
Allele change: Missense_Q332P

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2E

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.