NM_152269.5(MTRFR):c.248del (p.Val83fs)Pathogenic
Combined oxidative phosphorylation defect type 7|Hereditary spastic paraplegia 55|Abnormal brain morphology|Epileptic encephalopathy|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β
β
ββ2025β Residue 83
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)Pathogenic
Combined oxidative phosphorylation defect type 7|Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β
β
ββ2025β Residue 70
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)Pathogenic
not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia|Combined oxidative phosphorylation defect type 7;Hereditary spastic paraplegia 55
β
β
ββ2025β Residue 34
NM_152269.5(MTRFR):c.210del (p.Gly72fs)Pathogenic
Combined oxidative phosphorylation defect type 7|not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β
β
ββ2025β Residue 72
NM_152269.5(MTRFR):c.43C>T (p.Arg15Ter)Pathogenic
not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β
β
ββ2025β Residue 15
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)Pathogenic
Hereditary spastic paraplegia 55|not provided|Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β
β
ββ2024β Residue 132
NM_152269.5(MTRFR):c.259del (p.Ile87fs)Pathogenic
not provided|Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β
β
ββ2024β Residue 87
NM_152269.5(MTRFR):c.283-1G>TLikely pathogenic
not provided
β
βββ2023
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)Pathogenic
Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β
βββ2023β Residue 48
NM_152269.5(MTRFR):c.385_404dup (p.Lys138fs)Likely pathogenic
MTRFR-related disorder
β
βββ2023β Residue 138
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)Pathogenic
Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β
βββ2023β Residue 65
NM_152269.5(MTRFR):c.346del (p.Lys115_Val116insTer)Pathogenic
Hereditary spastic paraplegia 55|not provided|Combined oxidative phosphorylation defect type 7
β
βββ2023β Residue 115
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter)Pathogenic
Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β
βββ2021β Residue 137
NM_152269.5(MTRFR):c.18_21del (p.Leu6fs)Likely pathogenic
Hereditary motor and sensory neuropathy with optic atrophy
β
βββ2020β Residue 6
NM_152269.5(MTRFR):c.127_146del (p.Met43fs)Pathogenic
Hereditary spastic paraplegia 55
β
βββ2020β Residue 43
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)Likely pathogenic
Hereditary spastic paraplegia 55
β
βββ2020β Residue 139
NM_152269.5(MTRFR):c.307del (p.Gln103fs)Pathogenic
Combined oxidative phosphorylation defect type 7;Spastic paraplegia
β
βββ2020β Residue 103
NM_152269.5(MTRFR):c.-28-1489_283-968delPathogenic
Neurodevelopmental disorder
β
βββ2019
NM_152269.5(MTRFR):c.33dup (p.Pro12fs)Pathogenic
Spastic paraplegia;Combined oxidative phosphorylation defect type 7
β
βββ2019β Residue 12
NM_152269.5(MTRFR):c.427_442dup (p.Thr148fs)Likely pathogenic
not provided
β
βββ2017β Residue 148