Homozygous Familial Hypercholesterolemia(HoFH) Explore Disorder's Alias
An Autosomal dominant,Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant,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 | LDLR/3949 | low density lipoprotein receptor | 19p13.2 | Chr19, NC_000019.10 (11089463..11133820) |
44358 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities