Variant (rsID / SNP)

rs138072432

rs138072432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,064,087. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MFN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:12064087
Cytoband: 1p36.22
HGVS: NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro)
Allele change: Missense_R400Q

Associated conditions / phenotypes

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

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.