Variant (rsID / SNP)

rs28940294

rs28940294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,061,480. 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: 1:12061480
Cytoband: 1p36.22
HGVS: NM_014874.4(MFN2):c.839G>A (p.Arg280His)
Allele change: Missense_R280H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Peripheral neuropathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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