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Variant (rsID / SNP)

rs78651634

MTRFR

rs78651634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRFR. Location: chromosome 12, position 123,738,265. Clinical significance in the table: Benign.

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Reference-table entries

MTRFRBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
12:123738265
Cytoband
12q24.31
HGVS
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
Allele change
Missense_R15Q

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.