Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201715603

MFN2

rs201715603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,049,283. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MFN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:12049283
Cytoband
1p36.22
HGVS
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
Allele change
Missense_H20Y

Associated conditions / phenotypes

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