Progressive Familial Intrahepatic Cholestasis Type 2(ABCB11 progressive familial intrahepatic cholestasis) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Liver disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Liver 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 | ABCB11/8647 | ATP binding cassette subfamily B member 11 | 2q31.1 | Chr2, NC_000002.12 (168915390..169031324, complement) |
115935 nt | 30 | 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 | ||||||||
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Clinical Symptoms & Disabilities