Classic Homocystinuria(CBS deficiency) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CBS/875 | cystathionine beta-synthase | 21q22.3 | Chr21, NC_000021.9 (43053191..43076873, complement) |
23683 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PKHD1/5314 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 6p12.2 | Chr6, NC_000006.12 (51615299..52087615, complement) |
472317 nt | 75 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities