CYP7B1 (cytochrome P450 family 7 subfamily B member 1) - Rat Genome Database

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Gene: CYP7B1 (cytochrome P450 family 7 subfamily B member 1) Homo sapiens
Analyze
Symbol: CYP7B1
Name: cytochrome P450 family 7 subfamily B member 1
RGD ID: 735270
HGNC Page HGNC
Description: Predicted to have oxysterol 7-alpha-hydroxylase activity. Predicted to be involved in B cell chemotaxis; bile acid biosynthetic process; and cholesterol homeostasis. Predicted to localize to endoplasmic reticulum membrane. Implicated in congenital bile acid synthesis defect 3 and hereditary spastic paraplegia 5A.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 24-hydroxycholesterol 7-alpha-hydroxylase; 25-hydroxycholesterol 7-alpha-hydroxylase; 25/26-hydroxycholesterol 7-alpha-hydroxylase; 3-hydroxysteroid 7-alpha hydroxylase; CBAS3; CP7B; cytochrome P450 7B1; cytochrome P450, family 7, subfamily B, polypeptide 1; cytochrome p450, subfamily 7b, polypeptide 1; cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1; oxysterol 7-alpha-hydroxylase; oxysterol 7alpha-hydroxylase; spastic paraplegia 5A (autosomal recessive); SPG5A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl864,587,763 - 64,798,737 (-)EnsemblGRCh38hg38GRCh38
GRCh38864,586,575 - 64,798,737 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37865,499,132 - 65,711,294 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36865,671,246 - 65,873,902 (-)NCBINCBI36hg18NCBI36
Build 34865,671,245 - 65,873,902NCBI
Celera861,498,536 - 61,701,760 (-)NCBI
Cytogenetic Map8q12.3NCBI
HuRef860,998,772 - 61,201,422 (-)NCBIHuRef
CHM1_1865,562,219 - 65,765,057 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(25R)-cholest-5-ene-3beta,26-diol  (EXP,ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-arachidonoylglycerol  (ISO)
25-hydroxycholesterol  (ISO)
26-hydroxycholesterol  (EXP,ISO)
3',5'-cyclic AMP  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetaldehyde  (ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
AM-251  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
androstane-3,17-diol  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
atrazine  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
cerium trichloride  (ISO)
cholesterol  (ISO)
cholic acid  (ISO)
choline  (ISO)
ciprofibrate  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
cyclosporin A  (ISO)
dehydroepiandrosterone  (EXP)
deoxycholic acid  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
elemental selenium  (ISO)
emodin  (ISO)
endosulfan  (ISO)
enilconazole  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
flumequine  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
griseofulvin  (ISO)
hexachlorobenzene  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
lithocholic acid  (ISO)
lycopene  (ISO)
MeIQx  (ISO)
metacetamol  (ISO)
methapyrilene  (EXP)
methoxyacetic acid  (ISO)
methylmercury chloride  (ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
oleanolic acid  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phytosterols  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
resveratrol  (ISO)
rifaximin  (EXP)
rotenone  (ISO)
selenium atom  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
taurocholic acid  (ISO)
taurodeoxycholic acid  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (ISO)
zaragozic acid A  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of the coagulation cascade  (IAGP)
Abnormality of the urinary system  (IAGP)
Acholic stools  (IAGP)
Ankle clonus  (IAGP)
Atrophy of the spinal cord  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Biliary tract abnormality  (IAGP)
Cataract  (IAGP)
Cirrhosis  (IAGP)
Cognitive impairment  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Diarrhea  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated hepatic transaminase  (IAGP)
Failure to thrive  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Hepatic failure  (IAGP)
Hepatitis  (IAGP)
Hepatomegaly  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperreflexia  (IAGP)
Impaired distal proprioception  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Impaired vibratory sensation  (IAGP)
Intrahepatic cholestasis  (IAGP)
Jaundice  (IAGP)
Limb ataxia  (IAGP)
Limb dysmetria  (IAGP)
Lower limb amyotrophy  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Neonatal cholestatic liver disease  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Paraplegia  (IAGP)
Pes cavus  (IAGP)
Polyneuropathy  (IAGP)
Progressive  (IAGP)
Pruritus  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Splenomegaly  (IAGP)
Steatorrhea  (IAGP)
Truncal ataxia  (IAGP)
Upper limb amyotrophy  (IAGP)
Upper limb muscle weakness  (IAGP)
Upper limb spasticity  (IAGP)
Urinary incontinence  (IAGP)
References

Additional References at PubMed
PMID:7987300   PMID:8889548   PMID:9559267   PMID:9802883   PMID:10588945   PMID:12477932   PMID:12721789   PMID:14521990   PMID:15003524   PMID:15007371   PMID:15128046   PMID:15181079  
PMID:15342556   PMID:15698543   PMID:15751070   PMID:16630558   PMID:17467270   PMID:17680536   PMID:18055760   PMID:18252231   PMID:18331353   PMID:18676680   PMID:18790053   PMID:18855023  
PMID:19170196   PMID:19187859   PMID:19343046   PMID:19363635   PMID:19439420   PMID:19625176   PMID:19687010   PMID:19692168   PMID:19732851   PMID:19913121   PMID:20301682   PMID:20628086  
PMID:21214876   PMID:21452256   PMID:21541746   PMID:21567895   PMID:21873635   PMID:22174851   PMID:23180418   PMID:23393555   PMID:23400010   PMID:24117163   PMID:24491228   PMID:24519355  
PMID:24641183   PMID:24658845   PMID:25915148   PMID:26370385   PMID:26374131   PMID:26399852   PMID:26714052   PMID:27278684   PMID:28514442   PMID:30710743   PMID:31337596   PMID:32202070  


Genomics

Comparative Map Data
CYP7B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl864,587,763 - 64,798,737 (-)EnsemblGRCh38hg38GRCh38
GRCh38864,586,575 - 64,798,737 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37865,499,132 - 65,711,294 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36865,671,246 - 65,873,902 (-)NCBINCBI36hg18NCBI36
Build 34865,671,245 - 65,873,902NCBI
Celera861,498,536 - 61,701,760 (-)NCBI
Cytogenetic Map8q12.3NCBI
HuRef860,998,772 - 61,201,422 (-)NCBIHuRef
CHM1_1865,562,219 - 65,765,057 (-)NCBICHM1_1
Cyp7b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39318,126,108 - 18,298,054 (-)NCBIGRCm39mm39
GRCm39 Ensembl318,126,114 - 18,297,502 (-)Ensembl
GRCm38318,071,944 - 18,243,890 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl318,071,950 - 18,243,338 (-)EnsemblGRCm38mm10GRCm38
MGSCv37317,971,950 - 18,143,338 (-)NCBIGRCm37mm9NCBIm37
MGSCv36318,264,101 - 18,435,480 (-)NCBImm8
Celera318,067,760 - 18,239,527 (-)NCBICelera
Cytogenetic Map3A1NCBI
cM Map34.98NCBI
Cyp7b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22100,502,791 - 100,669,713 (-)NCBI
Rnor_6.0 Ensembl2102,701,903 - 102,871,257 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02102,701,903 - 102,871,257 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02122,442,002 - 122,610,354 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42103,102,679 - 103,271,273 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12103,048,320 - 103,073,714 (-)NCBI
Celera295,908,860 - 96,075,269 (-)NCBICelera
RH 3.4 Map2606.1RGD
Cytogenetic Map2q24NCBI
LOC102022645
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544414,275,345 - 14,444,426 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544414,274,818 - 14,446,068 (+)NCBIChiLan1.0ChiLan1.0
CYP7B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1862,806,129 - 63,006,450 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl862,806,637 - 63,006,386 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0861,135,307 - 61,335,838 (-)NCBIMhudiblu_PPA_v0panPan3
CYP7B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12914,443,036 - 14,613,839 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2914,444,853 - 14,613,755 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2914,762,658 - 14,936,799 (-)NCBI
ROS_Cfam_1.02914,537,942 - 14,712,338 (-)NCBI
UMICH_Zoey_3.12914,550,483 - 14,724,576 (-)NCBI
UNSW_CanFamBas_1.02914,664,658 - 14,838,558 (-)NCBI
UU_Cfam_GSD_1.02914,932,049 - 15,106,453 (-)NCBI
LOC101955077
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530365,707,508 - 65,885,081 (-)NCBI
SpeTri2.0NW_0049364968,900,320 - 9,072,109 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP7B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl469,616,035 - 69,806,496 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1469,615,953 - 69,793,131 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CYP7B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1860,496,607 - 60,691,457 (-)NCBI
ChlSab1.1 Ensembl860,496,733 - 60,524,238 (-)Ensembl
Vero_WHO_p1.0NW_02366603981,044,277 - 81,069,295 (+)NCBI
LOC101721563
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474426,791,829 - 26,999,584 (+)NCBI

Position Markers
D8S544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37865,591,395 - 65,591,528UniSTSGRCh37
Build 36865,753,949 - 65,754,082RGDNCBI36
Celera861,581,378 - 61,581,511RGD
Cytogenetic Map8q21.3UniSTS
HuRef861,081,686 - 61,081,823UniSTS
Marshfield Genetic Map881.68RGD
Marshfield Genetic Map881.68UniSTS
Genethon Genetic Map881.0UniSTS
deCODE Assembly Map876.01UniSTS
Whitehead-YAC Contig Map8 UniSTS
G60304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37865,591,355 - 65,591,632UniSTSGRCh37
Build 36865,753,909 - 65,754,186RGDNCBI36
Celera861,581,338 - 61,581,615RGD
Cytogenetic Map8q21.3UniSTS
HuRef861,081,646 - 61,081,927UniSTS
TNG Radiation Hybrid Map832858.0UniSTS
SHGC-141962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37865,619,995 - 65,620,276UniSTSGRCh37
Build 36865,782,549 - 65,782,830RGDNCBI36
Celera861,610,143 - 61,610,424RGD
Cytogenetic Map8q21.3UniSTS
HuRef861,110,085 - 61,110,366UniSTS
TNG Radiation Hybrid Map832843.0UniSTS
SHGC-142808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37865,667,103 - 65,667,387UniSTSGRCh37
Build 36865,829,657 - 65,829,941RGDNCBI36
Celera861,657,255 - 61,657,539RGD
Cytogenetic Map8q21.3UniSTS
HuRef861,157,162 - 61,157,446UniSTS
TNG Radiation Hybrid Map832827.0UniSTS
SHGC-58037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37865,583,480 - 65,583,744UniSTSGRCh37
GRCh37865,583,480 - 65,583,651UniSTSGRCh37
Build 36865,746,034 - 65,746,205RGDNCBI36
Celera861,573,465 - 61,573,729UniSTS
Celera861,573,465 - 61,573,636RGD
Cytogenetic Map8q21.3UniSTS
HuRef861,073,773 - 61,073,944UniSTS
HuRef861,073,773 - 61,074,037UniSTS
TNG Radiation Hybrid Map832858.0UniSTS
D8S1173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37865,583,126 - 65,583,307UniSTSGRCh37
Build 36865,745,680 - 65,745,861RGDNCBI36
Celera861,573,111 - 61,573,292RGD
Cytogenetic Map8q21.3UniSTS
HuRef861,073,419 - 61,073,600UniSTS
Whitehead-YAC Contig Map8 UniSTS
CYP7B1_2190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37865,508,683 - 65,509,488UniSTSGRCh37
Build 36865,671,237 - 65,672,042RGDNCBI36
Celera861,498,690 - 61,499,495RGD
HuRef860,998,926 - 60,999,731UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:466
Count of miRNA genes:322
Interacting mature miRNAs:351
Transcripts:ENST00000310193, ENST00000523954
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 10 11 125 82 324 82 280 15 200 76 66 187 2 86 183
Low 2058 1938 1563 523 579 362 3318 1150 2984 294 1287 1315 167 1 1118 1885 2 2
Below cutoff 266 816 22 13 625 12 739 996 512 36 53 38 3 711 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF127089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF127090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM729103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP349825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ575990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000310193   ⟹   ENSP00000310721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl864,590,851 - 64,798,737 (-)Ensembl
RefSeq Acc Id: ENST00000523954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl864,587,763 - 64,615,814 (-)Ensembl
RefSeq Acc Id: NM_001324112   ⟹   NP_001311041
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38864,586,575 - 64,798,737 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004820   ⟹   NP_004811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38864,590,851 - 64,798,737 (-)NCBI
GRCh37865,508,529 - 65,711,348 (-)ENTREZGENE
Build 36865,671,246 - 65,873,902 (-)NCBI Archive
HuRef860,998,772 - 61,201,422 (-)ENTREZGENE
CHM1_1865,562,219 - 65,765,057 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014002   ⟹   XP_016869491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38864,590,851 - 64,710,741 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004811   ⟸   NM_004820
- Peptide Label: isoform 1
- UniProtKB: O75881 (UniProtKB/Swiss-Prot),   Q05C57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869491   ⟸   XM_017014002
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001311041   ⟸   NM_001324112
- Peptide Label: isoform 2
- UniProtKB: Q05C57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000310721   ⟸   ENST00000310193

Promoters
RGD ID:7213399
Promoter ID:EPDNEW_H12445
Type:initiation region
Name:CYP7B1_1
Description:cytochrome P450 family 7 subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38864,798,737 - 64,798,797EPDNEW
RGD ID:6806589
Promoter ID:HG_KWN:61393
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_004820
Position:
Human AssemblyChrPosition (strand)Source
Build 36865,873,576 - 65,874,287 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004820.5(CYP7B1):c.891T>A (p.Thr297=) single nucleotide variant Spastic paraplegia [RCV000546199] Chr8:64615192 [GRCh38]
Chr8:65527749 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.73_99del (p.Ala25_Leu33del) deletion not provided [RCV000521983] Chr8:64798489..64798515 [GRCh38]
Chr8:65711046..65711072 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.538C>G (p.Leu180Val) single nucleotide variant Spastic paraplegia [RCV000532801] Chr8:64616003 [GRCh38]
Chr8:65528560 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.764C>A (p.Ala255Asp) single nucleotide variant not provided [RCV000727976] Chr8:64615777 [GRCh38]
Chr8:65528334 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1376T>C (p.Ile459Thr) single nucleotide variant not provided [RCV000729668] Chr8:64596787 [GRCh38]
Chr8:65509344 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.494T>A (p.Phe165Tyr) single nucleotide variant not provided [RCV000728264] Chr8:64616047 [GRCh38]
Chr8:65528604 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1171G>C (p.Asp391His) single nucleotide variant not provided [RCV000728364] Chr8:64604744 [GRCh38]
Chr8:65517301 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) single nucleotide variant not provided [RCV000729200] Chr8:64615896 [GRCh38]
Chr8:65528453 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter) single nucleotide variant Bile acid synthesis defect, congenital, 3 [RCV000006473]|Hereditary spastic paraplegia 5A [RCV000006474]|Spastic paraplegia [RCV000800899] Chr8:64604753 [GRCh38]
Chr8:65517310 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000006475] Chr8:64604827 [GRCh38]
Chr8:65517384 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000006476] Chr8:64624493 [GRCh38]
Chr8:65537050 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000006477]|Spastic paraplegia [RCV000206595]|not provided [RCV000329074] Chr8:64596913 [GRCh38]
Chr8:65509470 [GRCh37]
Chr8:8q12.3
pathogenic|likely pathogenic
NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000006478] Chr8:64615894 [GRCh38]
Chr8:65528451 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000006479]|Hereditary spastic paraplegia [RCV000515995]|Spastic paraplegia [RCV000553161]|not provided [RCV000260437] Chr8:64615716 [GRCh38]
Chr8:65528273 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000006480] Chr8:64596755 [GRCh38]
Chr8:65509312 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000006481]|Hereditary spastic paraplegia [RCV000516130]|Spastic paraplegia [RCV000197085]|not provided [RCV000290486] Chr8:64596707 [GRCh38]
Chr8:65509264 [GRCh37]
Chr8:8q12.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004820.5(CYP7B1):c.260G>T (p.Gly87Val) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000106301] Chr8:64616281 [GRCh38]
Chr8:65528838 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000106302]|Spastic paraplegia [RCV000200232]|not provided [RCV000422978] Chr8:64615194 [GRCh38]
Chr8:65527751 [GRCh37]
Chr8:8q12.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000350622]|Spastic paraplegia [RCV001082705]|not provided [RCV000713476]|not specified [RCV000173357] Chr8:64798532 [GRCh38]
Chr8:65711089 [GRCh37]
Chr8:8q12.3
benign|likely benign
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
NM_004820.3(CYP7B1):c.394C>T (p.His132Tyr) single nucleotide variant Malignant melanoma [RCV000068362] Chr8:64616147 [GRCh38]
Chr8:65528704 [GRCh37]
Chr8:65691258 [NCBI36]
Chr8:8q12.3
not provided
NM_004820.5(CYP7B1):c.188G>A (p.Arg63Gln) single nucleotide variant not provided [RCV000597075] Chr8:64624474 [GRCh38]
Chr8:65537031 [GRCh37]
Chr8:65699585 [NCBI36]
Chr8:8q12.3
uncertain significance|not provided
NM_004820.3(CYP7B1):c.1234-2518G>T single nucleotide variant Lung cancer [RCV000107614] Chr8:64599447 [GRCh38]
Chr8:65512004 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.3(CYP7B1):c.123-15004A>G single nucleotide variant Lung cancer [RCV000107615] Chr8:64639543 [GRCh38]
Chr8:65552100 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.3(CYP7B1):c.123-26708T>A single nucleotide variant Lung cancer [RCV000107616] Chr8:64651247 [GRCh38]
Chr8:65563804 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1 copy number loss See cases [RCV000133649] Chr8:60816393..65117062 [GRCh38]
Chr8:61728952..66029297 [GRCh37]
Chr8:61891506..66191851 [NCBI36]
Chr8:8q12.2-13.1
pathogenic
NM_004820.5(CYP7B1):c.123-9del deletion Spastic paraplegia [RCV001089303]|not provided [RCV000860130]|not specified [RCV000175791] Chr8:64624548 [GRCh38]
Chr8:65537105 [GRCh37]
Chr8:8q12.3
benign
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3 copy number gain See cases [RCV000134830] Chr8:60519222..66659025 [GRCh38]
Chr8:61431781..67571260 [GRCh37]
Chr8:61594335..67733814 [NCBI36]
Chr8:8q12.1-13.1
pathogenic
GRCh38/hg38 8q12.3(chr8:64079639-64886541)x1 copy number loss See cases [RCV000136669] Chr8:64079639..64886541 [GRCh38]
Chr8:64992196..65798776 [GRCh37]
Chr8:65154750..65961330 [NCBI36]
Chr8:8q12.3
uncertain significance
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_004820.5(CYP7B1):c.835G>A (p.Asp279Asn) single nucleotide variant not provided [RCV000177218] Chr8:64615706 [GRCh38]
Chr8:65528263 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.525G>C (p.Trp175Cys) single nucleotide variant not provided [RCV000177219] Chr8:64616016 [GRCh38]
Chr8:65528573 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.619A>G (p.Lys207Glu) single nucleotide variant Spastic paraplegia [RCV000199336] Chr8:64615922 [GRCh38]
Chr8:65528479 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.77C>T (p.Ala26Val) single nucleotide variant Spastic paraplegia [RCV000542989] Chr8:64798511 [GRCh38]
Chr8:65711068 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000321175]|Spastic paraplegia [RCV001321782]|not provided [RCV000353958] Chr8:64624537 [GRCh38]
Chr8:65537094 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001163749]|Spastic paraplegia [RCV000205382]|not provided [RCV000512932] Chr8:64798529 [GRCh38]
Chr8:65711086 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser) single nucleotide variant Spastic paraplegia [RCV000205441] Chr8:64604695 [GRCh38]
Chr8:65517252 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.204G>A (p.Arg68=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000379462]|Spastic paraplegia [RCV000205949] Chr8:64624458 [GRCh38]
Chr8:65537015 [GRCh37]
Chr8:8q12.3
likely benign|uncertain significance
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) single nucleotide variant Bile acid synthesis defect, congenital, 3 [RCV001312060]|Inborn genetic diseases [RCV000210595]|Spastic paraplegia [RCV000206556]|not provided [RCV000729706] Chr8:64616207 [GRCh38]
Chr8:65528764 [GRCh37]
Chr8:8q12.3
pathogenic|conflicting interpretations of pathogenicity
NM_004820.5(CYP7B1):c.914dup (p.Met305fs) duplication Hereditary spastic paraplegia [RCV000515892] Chr8:64615168..64615169 [GRCh38]
Chr8:65527725..65527726 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.525G>A (p.Trp175Ter) single nucleotide variant Spastic paraplegia [RCV000230120] Chr8:64616016 [GRCh38]
Chr8:65528573 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.197C>G (p.Pro66Arg) single nucleotide variant Spastic paraplegia [RCV000233440] Chr8:64624465 [GRCh38]
Chr8:65537022 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs) deletion Spastic paraplegia [RCV000227207] Chr8:64616217..64616220 [GRCh38]
Chr8:65528774..65528777 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.601A>G (p.Ile201Val) single nucleotide variant not specified [RCV000516834] Chr8:64615940 [GRCh38]
Chr8:65528497 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000402507]|Spastic paraplegia [RCV000699302]|not provided [RCV000597813] Chr8:64616192 [GRCh38]
Chr8:65528749 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) single nucleotide variant Congenital bile acid synthesis defect [RCV000269199]|Spastic Paraplegia, Recessive [RCV000307928]|not provided [RCV000866423] Chr8:64596840 [GRCh38]
Chr8:65509397 [GRCh37]
Chr8:8q12.3
likely benign|uncertain significance
NM_004820.5(CYP7B1):c.*337T>G single nucleotide variant Hereditary spastic paraplegia 5A [RCV000408436] Chr8:64596305 [GRCh38]
Chr8:65508862 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.-73A>C single nucleotide variant Hereditary spastic paraplegia 5A [RCV000349675] Chr8:64798660 [GRCh38]
Chr8:65711217 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000391244]|Spastic paraplegia [RCV001078606]|not provided [RCV000593980] Chr8:64616019 [GRCh38]
Chr8:65528576 [GRCh37]
Chr8:8q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000329992] Chr8:64604682 [GRCh38]
Chr8:65517239 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000319168] Chr8:64615065 [GRCh38]
Chr8:65527622 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000279265]|Spastic paraplegia [RCV000461040]|not specified [RCV000427407] Chr8:64615112 [GRCh38]
Chr8:65527669 [GRCh37]
Chr8:8q12.3
benign|likely benign
NM_004820.5(CYP7B1):c.*402A>T single nucleotide variant Hereditary spastic paraplegia 5A [RCV000334680] Chr8:64596240 [GRCh38]
Chr8:65508797 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.*529A>G single nucleotide variant Hereditary spastic paraplegia 5A [RCV000391774] Chr8:64596113 [GRCh38]
Chr8:65508670 [GRCh37]
Chr8:8q12.3
benign|likely benign
NM_004820.5(CYP7B1):c.-144C>T single nucleotide variant Hereditary spastic paraplegia 5A [RCV000264626] Chr8:64798731 [GRCh38]
Chr8:65711288 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.*111G>A single nucleotide variant Hereditary spastic paraplegia 5A [RCV000404585] Chr8:64596531 [GRCh38]
Chr8:65509088 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000340299]|Spastic paraplegia [RCV000557454]|not provided [RCV000762518] Chr8:64615154 [GRCh38]
Chr8:65527711 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.-89C>G single nucleotide variant Hereditary spastic paraplegia 5A [RCV000353227] Chr8:64798676 [GRCh38]
Chr8:65711233 [GRCh37]
Chr8:8q12.3
benign|likely benign
NM_004820.5(CYP7B1):c.260-15dup duplication Congenital bile acid synthesis defect [RCV000299831]|Spastic Paraplegia, Recessive [RCV000275100]|not specified [RCV000291796] Chr8:64616285..64616286 [GRCh38]
Chr8:65528842..65528843 [GRCh37]
Chr8:8q12.3
benign|uncertain significance
NM_004820.5(CYP7B1):c.793C>T (p.Gln265Ter) single nucleotide variant not provided [RCV000285743] Chr8:64615748 [GRCh38]
Chr8:65528305 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.123-19dup duplication Congenital bile acid synthesis defect [RCV000290793]|Spastic Paraplegia, Recessive [RCV000378188]|Spastic paraplegia [RCV000860845] Chr8:64624547..64624548 [GRCh38]
Chr8:65537104..65537105 [GRCh37]
Chr8:8q12.3
benign|uncertain significance
NM_004820.5(CYP7B1):c.629G>A (p.Ser210Asn) single nucleotide variant not provided [RCV000376670] Chr8:64615912 [GRCh38]
Chr8:65528469 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.209T>A (p.Met70Lys) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000357504] Chr8:64624453 [GRCh38]
Chr8:65537010 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1507A>G (p.Lys503Glu) single nucleotide variant not provided [RCV000346882] Chr8:64596656 [GRCh38]
Chr8:65509213 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr) single nucleotide variant Congenital bile acid synthesis defect [RCV000277203]|Spastic Paraplegia, Recessive [RCV000369459] Chr8:64596853 [GRCh38]
Chr8:65509410 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.122+19A>T single nucleotide variant not specified [RCV000397800] Chr8:64798447 [GRCh38]
Chr8:65711004 [GRCh37]
Chr8:8q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) single nucleotide variant Bile acid synthesis defect, congenital, 3 [RCV001332520]|Spastic paraplegia [RCV001232156]|not provided [RCV000262419] Chr8:64616011 [GRCh38]
Chr8:65528568 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.259+2T>C single nucleotide variant Hereditary spastic paraplegia 5A [RCV000490267] Chr8:64624401 [GRCh38]
Chr8:65536958 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1456C>A (p.Arg486Ser) single nucleotide variant Spastic paraplegia [RCV000705495]|not provided [RCV000489784] Chr8:64596707 [GRCh38]
Chr8:65509264 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.261A>G (p.Gly87=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000367409] Chr8:64616280 [GRCh38]
Chr8:65528837 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.-11G>A single nucleotide variant Hereditary spastic paraplegia 5A [RCV000292285] Chr8:64798598 [GRCh38]
Chr8:65711155 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000380767] Chr8:64798496 [GRCh38]
Chr8:65711053 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1147G>A (p.Gly383Arg) single nucleotide variant not specified [RCV000516673] Chr8:64604768 [GRCh38]
Chr8:65517325 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.-99G>C single nucleotide variant Hereditary spastic paraplegia 5A [RCV000304635] Chr8:64798686 [GRCh38]
Chr8:65711243 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1246_1248del (p.Asp416del) deletion not specified [RCV000517692] Chr8:64596915..64596917 [GRCh38]
Chr8:65509472..65509474 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys) single nucleotide variant Spastic paraplegia [RCV000531436]|not provided [RCV000594664] Chr8:64615709 [GRCh38]
Chr8:65528266 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) single nucleotide variant Congenital bile acid synthesis defect [RCV000341489]|Spastic Paraplegia, Recessive [RCV000379755] Chr8:64615126 [GRCh38]
Chr8:65527683 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1439T>C (p.Ile480Thr) single nucleotide variant not provided [RCV000730117] Chr8:64596724 [GRCh38]
Chr8:65509281 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) single nucleotide variant not provided [RCV000595934] Chr8:64616202 [GRCh38]
Chr8:65528759 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) duplication not provided [RCV000592016] Chr8:64596702..64596703 [GRCh38]
Chr8:65509259..65509260 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001163460]|not provided [RCV000592567] Chr8:64798494 [GRCh38]
Chr8:65711051 [GRCh37]
Chr8:8q12.3
conflicting interpretations of pathogenicity|uncertain significance
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391411]|not provided [RCV000578856] Chr8:64596809 [GRCh38]
Chr8:65509366 [GRCh37]
Chr8:8q12.3
pathogenic|likely pathogenic
NM_004820.5(CYP7B1):c.478A>G (p.Asn160Asp) single nucleotide variant not provided [RCV000592907] Chr8:64616063 [GRCh38]
Chr8:65528620 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.32G>T (p.Arg11Leu) single nucleotide variant not provided [RCV000597584] Chr8:64798556 [GRCh38]
Chr8:65711113 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.970C>G (p.Arg324Gly) single nucleotide variant not provided [RCV000591491] Chr8:64615113 [GRCh38]
Chr8:65527670 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) single nucleotide variant not provided [RCV000734329] Chr8:64596687 [GRCh38]
Chr8:65509244 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.638G>C (p.Arg213Thr) single nucleotide variant not provided [RCV000735027] Chr8:64615903 [GRCh38]
Chr8:65528460 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr) single nucleotide variant Bile acid synthesis defect, congenital, 3 [RCV001335196]|not provided [RCV000731165] Chr8:64616191 [GRCh38]
Chr8:65528748 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.695T>C (p.Ile232Thr) single nucleotide variant not provided [RCV000733862] Chr8:64615846 [GRCh38]
Chr8:65528403 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1256T>C (p.Ile419Thr) single nucleotide variant not provided [RCV000728482] Chr8:64596907 [GRCh38]
Chr8:65509464 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.500C>G (p.Pro167Arg) single nucleotide variant not provided [RCV000728568] Chr8:64616041 [GRCh38]
Chr8:65528598 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.953T>G (p.Val318Gly) single nucleotide variant not provided [RCV000730179] Chr8:64615130 [GRCh38]
Chr8:65527687 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1461G>T (p.Leu487Phe) single nucleotide variant not provided [RCV000733217] Chr8:64596702 [GRCh38]
Chr8:65509259 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) single nucleotide variant not provided [RCV000595510] Chr8:64615084 [GRCh38]
Chr8:65527641 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.17C>G (p.Ser6Cys) single nucleotide variant Bile acid synthesis defect, congenital, 3 [RCV001335195]|not provided [RCV000734461] Chr8:64798571 [GRCh38]
Chr8:65711128 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) single nucleotide variant not provided [RCV000732310] Chr8:64624491 [GRCh38]
Chr8:65537048 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) single nucleotide variant not provided [RCV000733268] Chr8:64624533 [GRCh38]
Chr8:65537090 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr) single nucleotide variant Spastic paraplegia [RCV001316442]|not provided [RCV000731440] Chr8:64798487 [GRCh38]
Chr8:65711044 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.8G>A (p.Gly3Glu) single nucleotide variant not provided [RCV000732443] Chr8:64798580 [GRCh38]
Chr8:65711137 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.839T>C (p.Leu280Pro) single nucleotide variant not provided [RCV000733322] Chr8:64615702 [GRCh38]
Chr8:65528259 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1171G>A (p.Asp391Asn) single nucleotide variant Spastic paraplegia [RCV001052479]|not provided [RCV000734856] Chr8:64604744 [GRCh38]
Chr8:65517301 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.928C>T (p.Arg310Trp) single nucleotide variant not provided [RCV000733613] Chr8:64615155 [GRCh38]
Chr8:65527712 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.-2G>A single nucleotide variant not provided [RCV000734218] Chr8:64798589 [GRCh38]
Chr8:65711146 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.19G>C (p.Ala7Pro) single nucleotide variant not provided [RCV000730748] Chr8:64798569 [GRCh38]
Chr8:65711126 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1031A>C (p.Glu344Ala) single nucleotide variant not specified [RCV000412720] Chr8:64615052 [GRCh38]
Chr8:65527609 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.568G>A (p.Glu190Lys) single nucleotide variant not provided [RCV000734926] Chr8:64615973 [GRCh38]
Chr8:65528530 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.105G>C (p.Leu35Phe) single nucleotide variant not provided [RCV000729276] Chr8:64798483 [GRCh38]
Chr8:65711040 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.786A>G (p.Glu262=) single nucleotide variant not provided [RCV000730883] Chr8:64615755 [GRCh38]
Chr8:65528312 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) single nucleotide variant not provided [RCV000730948] Chr8:64615047 [GRCh38]
Chr8:65527604 [GRCh37]
Chr8:8q12.3
conflicting interpretations of pathogenicity|uncertain significance
NM_004820.5(CYP7B1):c.147A>G (p.Ile49Met) single nucleotide variant not provided [RCV000728103] Chr8:64624515 [GRCh38]
Chr8:65537072 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1 copy number loss See cases [RCV000445999] Chr8:65194424..68570319 [GRCh37]
Chr8:8q12.3-13.2
pathogenic
NM_004820.5(CYP7B1):c.122+8C>T single nucleotide variant not specified [RCV000444089] Chr8:64798458 [GRCh38]
Chr8:65711015 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391405]|not provided [RCV000441505] Chr8:64616101 [GRCh38]
Chr8:65528658 [GRCh37]
Chr8:8q12.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs) duplication Spastic paraplegia [RCV000466675] Chr8:64596876..64596877 [GRCh38]
Chr8:65509433..65509434 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1355G>A (p.Arg452Gln) single nucleotide variant Spastic paraplegia [RCV000554487] Chr8:64596808 [GRCh38]
Chr8:65509365 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004820.5(CYP7B1):c.987A>G (p.Thr329=) single nucleotide variant not provided [RCV000633097] Chr8:64615096 [GRCh38]
Chr8:65527653 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.501C>T (p.Pro167=) single nucleotide variant Spastic paraplegia [RCV000633098] Chr8:64616040 [GRCh38]
Chr8:65528597 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) single nucleotide variant Spastic paraplegia [RCV001087330]|not provided [RCV000727422]|not specified [RCV000595734] Chr8:64596699 [GRCh38]
Chr8:65509256 [GRCh37]
Chr8:8q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004820.5(CYP7B1):c.142T>C (p.Leu48=) single nucleotide variant Spastic paraplegia [RCV000633081] Chr8:64624520 [GRCh38]
Chr8:65537077 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) single nucleotide variant not provided [RCV000595266] Chr8:64615120 [GRCh38]
Chr8:65527677 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.850+5G>C single nucleotide variant Spastic paraplegia [RCV000818995]|not provided [RCV000523484] Chr8:64615686 [GRCh38]
Chr8:65528243 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1085T>C (p.Leu362Pro) single nucleotide variant not provided [RCV000596821] Chr8:64604830 [GRCh38]
Chr8:65517387 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.51G>A (p.Leu17=) single nucleotide variant not specified [RCV000608197] Chr8:64798537 [GRCh38]
Chr8:65711094 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.96C>A (p.Ala32=) single nucleotide variant not specified [RCV000595733] Chr8:64798492 [GRCh38]
Chr8:65711049 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.1057+14A>G single nucleotide variant not specified [RCV000611796] Chr8:64615012 [GRCh38]
Chr8:65527569 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter) single nucleotide variant Spastic paraplegia [RCV000800946]|not provided [RCV000579004] Chr8:64624475 [GRCh38]
Chr8:65537032 [GRCh37]
Chr8:8q12.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001163747]|not provided [RCV000597899] Chr8:64798498 [GRCh38]
Chr8:65711055 [GRCh37]
Chr8:8q12.3
conflicting interpretations of pathogenicity|uncertain significance
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391409]|not provided [RCV000713475] Chr8:64596914 [GRCh38]
Chr8:65509471 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000714788] Chr8:64615128 [GRCh38]
Chr8:65527685 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004820.5(CYP7B1):c.1328G>C (p.Gly443Ala) single nucleotide variant not provided [RCV000762517] Chr8:64596835 [GRCh38]
Chr8:65509392 [GRCh37]
Chr8:8q12.3
likely pathogenic
NM_004820.5(CYP7B1):c.761T>C (p.Leu254Ser) single nucleotide variant not provided [RCV000762519] Chr8:64615780 [GRCh38]
Chr8:65528337 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.425A>G (p.Tyr142Cys) single nucleotide variant not provided [RCV000762520] Chr8:64616116 [GRCh38]
Chr8:65528673 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1058-8del deletion Spastic paraplegia [RCV001434596]|not provided [RCV000928419] Chr8:64604865 [GRCh38]
Chr8:65517422 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.123-10_123-9del deletion not provided [RCV000881889] Chr8:64624548..64624549 [GRCh38]
Chr8:65537105..65537106 [GRCh37]
Chr8:8q12.3
benign
NM_004820.5(CYP7B1):c.900T>C (p.Thr300=) single nucleotide variant not provided [RCV000902028] Chr8:64615183 [GRCh38]
Chr8:65527740 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.344C>G (p.Ser115Cys) single nucleotide variant Spastic paraplegia [RCV000808176] Chr8:64616197 [GRCh38]
Chr8:65528754 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.543T>C (p.Tyr181=) single nucleotide variant Spastic paraplegia [RCV000862906] Chr8:64615998 [GRCh38]
Chr8:65528555 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.122+9C>T single nucleotide variant not provided [RCV000863706] Chr8:64798457 [GRCh38]
Chr8:65711014 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000984500] Chr8:64596841 [GRCh38]
Chr8:65509398 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1146C>T (p.Thr382=) single nucleotide variant Spastic paraplegia [RCV000875790] Chr8:64604769 [GRCh38]
Chr8:65517326 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.260-4C>T single nucleotide variant not provided [RCV000874851] Chr8:64616285 [GRCh38]
Chr8:65528842 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.1461G>A (p.Leu487=) single nucleotide variant not provided [RCV000937427] Chr8:64596702 [GRCh38]
Chr8:65509259 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.850+157A>T single nucleotide variant not provided [RCV000829513] Chr8:64615534 [GRCh38]
Chr8:65528091 [GRCh37]
Chr8:8q12.3
benign
NM_004820.5(CYP7B1):c.970C>T (p.Arg324Cys) single nucleotide variant Spastic paraplegia [RCV000820309] Chr8:64615113 [GRCh38]
Chr8:65527670 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.259+281A>T single nucleotide variant not provided [RCV000826888] Chr8:64624122 [GRCh38]
Chr8:65536679 [GRCh37]
Chr8:8q12.3
benign
NM_004820.5(CYP7B1):c.910G>A (p.Ala304Thr) single nucleotide variant Spastic paraplegia [RCV000809412] Chr8:64615173 [GRCh38]
Chr8:65527730 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.148A>C (p.Lys50Gln) single nucleotide variant Spastic paraplegia [RCV000796544] Chr8:64624514 [GRCh38]
Chr8:65537071 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1 copy number loss not provided [RCV000846825] Chr8:65280508..67782846 [GRCh37]
Chr8:8q12.3-13.1
pathogenic
NM_004820.5(CYP7B1):c.123-72A>G single nucleotide variant not provided [RCV000838913] Chr8:64624611 [GRCh38]
Chr8:65537168 [GRCh37]
Chr8:8q12.3
benign
NM_004820.5(CYP7B1):c.1132C>G (p.Leu378Val) single nucleotide variant Spastic paraplegia [RCV000801399] Chr8:64604783 [GRCh38]
Chr8:65517340 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.815A>G (p.Glu272Gly) single nucleotide variant Spastic paraplegia [RCV000821122] Chr8:64615726 [GRCh38]
Chr8:65528283 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.823del (p.Tyr275fs) deletion Spastic paraplegia [RCV000821635] Chr8:64615718 [GRCh38]
Chr8:65528275 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg) single nucleotide variant Spastic paraplegia [RCV000793799] Chr8:64604713 [GRCh38]
Chr8:65517270 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8q12.3(chr8:65216452-65845271)x1 copy number loss not provided [RCV001006107] Chr8:65216452..65845271 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.854A>T (p.His285Leu) single nucleotide variant Spastic paraplegia [RCV000796326] Chr8:64615229 [GRCh38]
Chr8:65527786 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.608G>A (p.Cys203Tyr) single nucleotide variant Spastic paraplegia [RCV000797627] Chr8:64615933 [GRCh38]
Chr8:65528490 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs) duplication Spastic paraplegia [RCV001053764] Chr8:64615890..64615891 [GRCh38]
Chr8:65528447..65528448 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.392dup (p.Asn131fs) duplication Spastic paraplegia [RCV001054839] Chr8:64616148..64616149 [GRCh38]
Chr8:65528705..65528706 [GRCh37]
Chr8:8q12.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_004820.5(CYP7B1):c.75C>A (p.Ala25=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001163748] Chr8:64798513 [GRCh38]
Chr8:65711070 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.830A>C (p.His277Pro) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001161938] Chr8:64615711 [GRCh38]
Chr8:65528268 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.956G>T (p.Arg319Leu) single nucleotide variant Spastic paraplegia [RCV001226482] Chr8:64615127 [GRCh38]
Chr8:65527684 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8q12.3(chr8:65662657-65742312)x3 copy number gain not provided [RCV000847398] Chr8:65662657..65742312 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000995754] Chr8:64604824 [GRCh38]
Chr8:65517381 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.*575T>G single nucleotide variant Hereditary spastic paraplegia 5A [RCV001158724] Chr8:64596067 [GRCh38]
Chr8:65508624 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1497A>G (p.Leu499=) single nucleotide variant not provided [RCV000951738] Chr8:64596666 [GRCh38]
Chr8:65509223 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.-144C>G single nucleotide variant Hereditary spastic paraplegia 5A [RCV001158840] Chr8:64798731 [GRCh38]
Chr8:65711288 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1044C>T (p.Ser348=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001161937] Chr8:64615039 [GRCh38]
Chr8:65527596 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.70C>G (p.Leu24Val) single nucleotide variant Spastic paraplegia [RCV001247946] Chr8:64798518 [GRCh38]
Chr8:65711075 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.631_635del (p.Glu211fs) deletion not provided [RCV001092874] Chr8:64615906..64615910 [GRCh38]
Chr8:65528463..65528467 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.399_403del (p.Asp133fs) microsatellite not provided [RCV001092875] Chr8:64616138..64616142 [GRCh38]
Chr8:65528695..65528699 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.945_947dup (p.Ala317dup) duplication Spastic paraplegia [RCV001055049] Chr8:64615135..64615136 [GRCh38]
Chr8:65527692..65527693 [GRCh37]
Chr8:8q12.3
uncertain significance
GRCh37/hg19 8q12.3(chr8:65435916-65831159)x3 copy number gain not provided [RCV001006108] Chr8:65435916..65831159 [GRCh37]
Chr8:8q12.3
likely benign
NM_004820.5(CYP7B1):c.283G>T (p.Asp95Tyr) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001163458] Chr8:64616258 [GRCh38]
Chr8:65528815 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.*11A>G single nucleotide variant Hereditary spastic paraplegia 5A [RCV001158726] Chr8:64596631 [GRCh38]
Chr8:65509188 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001161939] Chr8:64615784 [GRCh38]
Chr8:65528341 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His) single nucleotide variant Bile acid synthesis defect, congenital, 3 [RCV001332519]|Spastic paraplegia [RCV001235957] Chr8:64596706 [GRCh38]
Chr8:65509263 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.177C>A (p.Val59=) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001163459] Chr8:64624485 [GRCh38]
Chr8:65537042 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr) single nucleotide variant Spastic paraplegia [RCV001212781] Chr8:64596817 [GRCh38]
Chr8:65509374 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys) single nucleotide variant Spastic paraplegia [RCV001212782] Chr8:64615122 [GRCh38]
Chr8:65527679 [GRCh37]
Chr8:8q12.3
pathogenic
NC_000008.11:g.(?_64624393)_(64624549_?)del deletion Spastic paraplegia [RCV001031267] Chr8:65536950..65537106 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.150del (p.Gly51fs) deletion Spastic paraplegia [RCV001205312] Chr8:64624512 [GRCh38]
Chr8:65537069 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.907T>G (p.Trp303Gly) single nucleotide variant Spastic paraplegia [RCV001205314] Chr8:64615176 [GRCh38]
Chr8:65527733 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1430A>G (p.Asp477Gly) single nucleotide variant Spastic paraplegia [RCV001213421] Chr8:64596733 [GRCh38]
Chr8:65509290 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.*49C>T single nucleotide variant Hereditary spastic paraplegia 5A [RCV001158725] Chr8:64596593 [GRCh38]
Chr8:65509150 [GRCh37]
Chr8:8q12.3
benign
NM_004820.5(CYP7B1):c.-135G>A single nucleotide variant Hereditary spastic paraplegia 5A [RCV001158839] Chr8:64798722 [GRCh38]
Chr8:65711279 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001268409] Chr8:64798587 [GRCh38]
Chr8:65711144 [GRCh37]
Chr8:8q12.3
likely pathogenic
NM_004820.5(CYP7B1):c.1033C>T (p.Gln345Ter) single nucleotide variant not provided [RCV001269840] Chr8:64615050 [GRCh38]
Chr8:65527607 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.835G>T (p.Asp279Tyr) single nucleotide variant not provided [RCV001289251] Chr8:64615706 [GRCh38]
Chr8:65528263 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.592G>C (p.Gly198Arg) single nucleotide variant Spastic paraplegia [RCV001299750] Chr8:64615949 [GRCh38]
Chr8:65528506 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.151G>C (p.Gly51Arg) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391401] Chr8:64624511 [GRCh38]
Chr8:65537068 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1468G>T (p.Gly490Cys) single nucleotide variant Spastic paraplegia [RCV001371793] Chr8:64596695 [GRCh38]
Chr8:65509252 [GRCh37]
Chr8:8q12.3
uncertain significance
NC_000008.10:g.(?_65509233_65510812del deletion Spastic paraplegia [RCV001300459]   uncertain significance
NM_004820.5(CYP7B1):c.23C>T (p.Ala8Val) single nucleotide variant Spastic paraplegia [RCV001323186] Chr8:64798565 [GRCh38]
Chr8:65711122 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391406]|Spastic paraplegia [RCV001341084] Chr8:64604854 [GRCh38]
Chr8:65517411 [GRCh37]
Chr8:8q12.3
pathogenic|uncertain significance
NM_004820.5(CYP7B1):c.11A>T (p.Glu4Val) single nucleotide variant Spastic paraplegia [RCV001327096] Chr8:64798577 [GRCh38]
Chr8:65711134 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1438A>G (p.Ile480Val) single nucleotide variant Spastic paraplegia [RCV001359794] Chr8:64596725 [GRCh38]
Chr8:65509282 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1481C>A (p.Pro494Gln) single nucleotide variant Spastic paraplegia [RCV001350655] Chr8:64596682 [GRCh38]
Chr8:65509239 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.1311_1316delinsAGAA (p.Cys437_Leu439delinsTer) indel Hereditary spastic paraplegia 5A [RCV001391410] Chr8:64596847..64596852 [GRCh38]
Chr8:65509404..65509409 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1163G>A (p.Arg388Gln) single nucleotide variant Spastic paraplegia [RCV001391571] Chr8:64604752 [GRCh38]
Chr8:65517309 [GRCh37]
Chr8:8q12.3
uncertain significance
NM_004820.5(CYP7B1):c.260-1G>A single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391403] Chr8:64616282 [GRCh38]
Chr8:65528839 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1168G>T (p.Gly390Ter) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391407] Chr8:64604747 [GRCh38]
Chr8:65517304 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391408] Chr8:64604722 [GRCh38]
Chr8:65517279 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.67del (p.Ala23fs) deletion Hereditary spastic paraplegia 5A [RCV001391400] Chr8:64798521 [GRCh38]
Chr8:65711078 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala) single nucleotide variant Hereditary spastic paraplegia 5A [RCV001391402] Chr8:64624492 [GRCh38]
Chr8:65537049 [GRCh37]
Chr8:8q12.3
pathogenic
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs) duplication Hereditary spastic paraplegia 5A [RCV001391404] Chr8:64616226..64616227 [GRCh38]
Chr8:65528783..65528784 [GRCh37]
Chr8:8q12.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2652 AgrOrtholog
COSMIC CYP7B1 COSMIC
Ensembl Genes ENSG00000172817 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000310721 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000310193 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172817 GTEx
HGNC ID HGNC:2652 ENTREZGENE
Human Proteome Map CYP7B1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CYP7A1-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9420 ENTREZGENE
OMIM 270800 OMIM
  603711 OMIM
  613812 OMIM
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27124 PharmGKB
PIRSF Cytochrome_CYPVIIA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS EP450IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CP7B1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05C57 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RN07 UniProtKB/Swiss-Prot
  Q9UNF5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-22 CYP7B1  cytochrome P450 family 7 subfamily B member 1  SPG5A  spastic paraplegia 5A (autosomal recessive)  Data Merged 737654 PROVISIONAL
2015-12-15 CYP7B1  cytochrome P450 family 7 subfamily B member 1    cytochrome P450, family 7, subfamily B, polypeptide 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 CYP7B1  cytochrome P450, family 7, subfamily B, polypeptide 1  CYP7B1  cytochrome P450, family 7, subfamily B, polypeptide 1  Symbol and/or name change 5135510 APPROVED