NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided
β
β
ββ2025β Residue 68
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided|SERAC1-related disorder
β
β
ββ2025β Residue 498
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2025β Residue 376
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2025β Residue 103
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2025β Residue 550
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided
β
β
ββ2025β Residue 447
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 79
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGGPathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|SERAC1-related disorder
β
β
ββ2025
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2024β Residue 89
NM_032861.4(SERAC1):c.438del (p.Thr147fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2024β Residue 147
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided
β
β
ββ2024β Residue 148
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2023β Residue 368
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2022β Residue 77
NM_032861.4(SERAC1):c.1167_1170delPathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2022
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
β
ββ2022β Residue 387
NM_032861.4(SERAC1):c.1501+3_1501+6delLikely pathogenic
not provided
β
βββ2026
NM_032861.4(SERAC1):c.1403+297_1403+298delLikely pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
βββ2025
NM_032861.4(SERAC1):c.92-1G>ALikely pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
βββ2025
NM_032861.4(SERAC1):c.733C>T (p.Gln245Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
βββ2025β Residue 245
NM_032861.4(SERAC1):c.548G>A (p.Arg183Gln)Likely pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β
βββ2024β Residue 183