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Variant (rsID / SNP)

rs119103268

MFN2

rs119103268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,052,746. Clinical significance in the table: Pathogenic.

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Reference-table entries

MFN2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:12052746
Cytoband
1p36.22
HGVS
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
Allele change
Missense_R104W

Associated conditions / phenotypes

Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Inborn genetic diseases

Public references

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