Variant (rsID / SNP)

rs387906990

rs387906990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,058,874. 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: 1:12058874
Cytoband: 1p36.22
HGVS: NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)
Allele change: Missense_F216S

Associated conditions / phenotypes

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b|Charcot-Marie-Tooth disease type 2

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.