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Variant (rsID / SNP)

rs150043585

MFN2

rs150043585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,064,941. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MFN2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:12064941
Cytoband
1p36.22
HGVS
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
Allele change
Synonymous_T484T

Associated conditions / phenotypes

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