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Variant (rsID / SNP)

rs138382758

MFN2

rs138382758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,064,892. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MFN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:12064892
Cytoband
1p36.22
HGVS
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
Allele change
Missense_R468H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2A2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Toe walking

Public references

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