CBLIF Chromosome 11
Cobalamin binding intrinsic factor
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What This Gene Does
This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
Hereditary intrinsic factor deficiency
CBLIF-related disorder
See cases
Acute myeloid leukemia
Key Variants
RS138504371
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
RS144916324
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency
Health Risk
RS148081315
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
RS150884181
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency
Health Risk
RS150926439
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency
Health Risk
RS200472519
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
RS369960390
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
RS370833765
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency
Health Risk
RS542431882
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
RS760404861
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
RS767310648
Conflicting classifications of pathogenicity
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
RS1213702908
Likely pathogenic
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138504371 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS144916324 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency |
| RS148081315 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS150884181 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency |
| RS150926439 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency |
| RS200472519 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS369960390 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS370833765 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, CBLIF-related disorder, Hereditary intrinsic factor deficiency |
| RS542431882 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS760404861 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS767310648 | Health Risk | Conflicting classifications of pathogenicity | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1213702908 | Health Risk | Likely pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS121434322 | Health Risk | Likely pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1590859406 | Health Risk | Likely pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS2495712049 | Health Risk | Likely pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS147785187 | Health Risk | Pathogenic | Hereditary intrinsic factor deficiency, See cases, Acute myeloid leukemia |
| RS1590854624 | Health Risk | Pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1590860794 | Health Risk | Pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1590860877 | Health Risk | Pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1866558759 | Health Risk | Pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS765896727 | Health Risk | Pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS796064508 | Health Risk | Pathogenic | Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |