Variant (rsID / SNP)

rs60547413

rs60547413 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFL. Location: chromosome 8, position 24,811,267. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NEFLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:24811267
Cytoband: 8p21.2
HGVS: NM_006158.5(NEFL):c.1212C>T (p.Ser404=)
Allele change: Synonymous_S404S

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease type 2E|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.