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Variant (rsID / SNP)

rs119103263

MFN2

rs119103263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,052,716. 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
1:12052716
Cytoband
1p36.22
HGVS
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
Allele change
Missense_R94W

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2A2|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|14 conditions|Charcot-Marie-Tooth disease

Public references

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