Familial Hypercholesterolemia(Hyperbetalipoproteinemia)
An Autosomal dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant 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 |
| 2 | PCSK9/255738 | proprotein convertase subtilisin/kexin type 9 | 1p32.3 | Chr1, NC_000001.11 (55039548..55064852) |
25305 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | APOB/338 | apolipoprotein B | 2p24.1 | Chr2, NC_000002.12 (21001429..21044073, complement) |
42645 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | LDLRAP1/26119 | low density lipoprotein receptor adaptor protein 1 | 1p36.11 | Chr1, NC_000001.11 (25543606..25590400) |
46795 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | PIP5K1B/8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | 9q21.11 | Chr9, NC_000009.12 (68705240..69009176) |
303937 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | SLC27A2/11001 | solute carrier family 27 member 2 | 15q21.2 | Chr15, NC_000015.10 (50182196..50236385) |
54190 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | INPP5F/22876 | inositol polyphosphate-5-phosphatase F | 10q26.11 | Chr10, NC_000010.11 (119726050..119829147) |
103098 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | PLCB4/5332 | phospholipase C beta 4 | 20p12.2 | Chr20, NC_000020.11 (9068678..9480808) |
412131 nt | 49 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | ITPR2/3709 | inositol 1,4,5-trisphosphate receptor type 2 | 12p11.23 | Chr12, NC_000012.12 (26335352..26833194, complement) |
497843 nt | 62 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | PIBF1/10464 | progesterone immunomodulatory binding factor 1 | 13q22.1 | Chr13, NC_000013.11 (72782133..73016461) |
234329 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | PLA1A/51365 | phospholipase A1 member A | 3q13.33 | Chr3, NC_000003.12 (119597885..119629811) |
31927 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | CYP3A4/1576 | cytochrome P450 family 3 subfamily A member 4 | 7q22.1 | Chr7, NC_000007.14 (99756967..99784184, complement) |
27218 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | HACL1/26061 | 2-hydroxyacyl-CoA lyase 1 | 3p25.1 | Chr3, NC_000003.12 (15560699..15601569, complement) |
40871 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | APOE/348 | apolipoprotein E | 19q13.32 | Chr19, NC_000019.10 (44905796..44909393) |
3598 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||