NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)Pathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|not provided|Hereditary spastic paraplegia|CYP7B1-related disorder|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β
β
ββ2026β Residue 417
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)Pathogenic
not provided|Hereditary spastic paraplegia 5A|Spastic paraplegia
β
β
ββ2026β Residue 417
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)Pathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|not provided|Hereditary spastic paraplegia|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3|CYP7B1-related disorder|CHD7-related CHARGE syndrome
β
β
ββ2026β Residue 486
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)Pathogenic
Hereditary spastic paraplegia 5A|not provided|Hereditary spastic paraplegia|Spastic paraplegia|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β
β
ββ2026β Residue 275
NM_004820.5(CYP7B1):c.259+2T>CPathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A
β
β
ββ2026
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)Pathogenic
Hereditary spastic paraplegia 5A|Congenital bile acid synthesis defect 3|Spastic paraplegia
β
β
ββ2025β Residue 388
NM_004820.5(CYP7B1):c.392dup (p.Asn131fs)Pathogenic
Spastic paraplegia|not provided|Hereditary spastic paraplegia
β
β
ββ2025β Residue 131
NM_004820.5(CYP7B1):c.1254del (p.Phe418fs)Pathogenic
Spastic paraplegia|CHD7-related CHARGE syndrome
β
β
ββ2025β Residue 418
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)Pathogenic
Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia|Spastic paraplegia|not provided
β
β
ββ2025β Residue 363
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)Pathogenic
Spastic paraplegia|Inborn genetic diseases|not provided|Congenital bile acid synthesis defect 3|Hereditary spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia 5A
β
β
ββ2025β Residue 112
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)Pathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|not provided|CYP7B1-related disorder|Hereditary spastic paraplegia
β
β
ββ2025β Residue 297
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A|not provided
β
β
ββ2025β Residue 321
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)Pathogenic
not provided|Hereditary spastic paraplegia 5A|Spastic paraplegia
β
β
ββ2024β Residue 452
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia|not provided
β
β
ββ2024β Residue 217
NM_004820.5(CYP7B1):c.525G>A (p.Trp175Ter)Pathogenic
Spastic paraplegia|not provided
β
β
ββ2024β Residue 175
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs)Pathogenic
Spastic paraplegia|not provided|Inborn genetic diseases|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β
β
ββ2024β Residue 107
NM_004820.5(CYP7B1):c.650T>A (p.Leu217Ter)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β
β
ββ2024β Residue 217
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)Pathogenic
Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia|Spastic paraplegia
β
β
ββ2024β Residue 105
NM_004820.5(CYP7B1):c.1233+1G>APathogenic
Spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A
β
β
ββ2024
NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter)Pathogenic
not provided|Spastic paraplegia|Hereditary spastic paraplegia 5A|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A|CYP7B1-related disorder
β
β
ββ2024β Residue 63