Variant (rsID / SNP)
rs28940292
rs28940292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,071,567. Clinical significance in the table: Pathogenic.
Reference-table entries
MFN2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:12071567
- Cytoband
- 1p36.22
- HGVS
- NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
- Allele change
- Missense_W740S
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.