Variant (rsID / SNP)
rs119103267
rs119103267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,069,698. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:12069698
- Cytoband
- 1p36.22
- HGVS
- NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
- Allele change
- Missense_R707W
Associated conditions / phenotypes
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Inborn genetic diseases|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2|MFN2-Related Disorders|Charcot-Marie-Tooth disease|Peripheral axonal neuropathy|Neuropathy, hereditary motor and sensory, type 6A|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2A2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.