Variant (rsID / SNP)

rs864622480

rs864622480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,059,056. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MFN2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:12059056
Cytoband: 1p36.22
HGVS: NM_014874.4(MFN2):c.720C>A (p.Phe240Leu)
Allele change: Missense_F240L

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2

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.