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Variant (rsID / SNP)

rs147328685

MTRFR

rs147328685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRFR. Location: chromosome 12, position 123,741,490. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MTRFRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:123741490
Cytoband
12q24.31
HGVS
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
Allele change
Missense_K138R

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 7|Spastic paraplegia|Combined oxidative phosphorylation defect type 7|Hereditary spastic paraplegia

Public references

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