LCAT Chromosome 16
Lecithin-cholesterol acyltransferase
Upload your DNA to see your personal genotypes for variants in LCAT.
What This Gene Does
This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Cardiovascular phenotype
LCAT deficiency
Norum disease
Fish-eye disease
LCAT-related disorder
Key Variants
RS1221945564
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1369994093
Conflicting classifications of pathogenicity
LCAT deficiency, Norum disease, Fish-eye disease
Health Risk
RS139146229
Conflicting classifications of pathogenicity
LCAT deficiency, Cardiovascular phenotype, LCAT deficiency
Health Risk
RS139453193
Conflicting classifications of pathogenicity
LCAT deficiency, Cardiovascular phenotype, LCAT deficiency
Health Risk
RS199717050
Conflicting classifications of pathogenicity
Health Risk
RS200225997
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS2058298885
Conflicting classifications of pathogenicity
LCAT deficiency, Cardiovascular phenotype, LCAT deficiency
Health Risk
RS368689576
Conflicting classifications of pathogenicity
LCAT deficiency, Cardiovascular phenotype, LCAT deficiency
Health Risk
RS372699306
Conflicting classifications of pathogenicity
LCAT deficiency, Cardiovascular phenotype, LCAT deficiency
Health Risk
RS376685971
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Norum disease, Fish-eye disease
Health Risk
RS556480808
Conflicting classifications of pathogenicity
LCAT deficiency, Cardiovascular phenotype, LCAT deficiency
Health Risk
RS5922
Conflicting classifications of pathogenicity
LCAT deficiency, Cardiovascular phenotype, LCAT deficiency
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1221945564 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1369994093 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Norum disease, Fish-eye disease |
| RS139146229 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS139453193 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS199717050 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200225997 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2058298885 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS368689576 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS372699306 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS376685971 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Norum disease, Fish-eye disease |
| RS556480808 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS5922 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS746113543 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Fish-eye disease, Norum disease |
| RS750086555 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, LCAT deficiency |
| RS753021814 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS767628388 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS770356071 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Fish-eye disease, Norum disease |
| RS773303978 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS775419267 | Health Risk | Conflicting classifications of pathogenicity | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS971887742 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Fish-eye disease, Norum disease |
| RS140068549 | Health Risk | Likely pathogenic | LCAT deficiency, Norum disease, Fish-eye disease |
| RS1461145750 | Health Risk | Likely pathogenic | LCAT-related disorder, LCAT-related disorder |
| RS2544405667 | Health Risk | Likely pathogenic | — |
| RS2544406643 | Health Risk | Likely pathogenic | Norum disease, Norum disease |
| RS28940887 | Health Risk | Likely pathogenic | LCAT deficiency, LCAT deficiency |
| RS370803551 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS745320775 | Health Risk | Likely pathogenic | Norum disease, Norum disease |
| RS121908048 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS121908049 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS121908050 | Health Risk | Pathogenic | Fish-eye disease, Norum disease, LCAT-related disorder |
| RS121908051 | Health Risk | Pathogenic | Fish-eye disease, Norum disease, Fish-eye disease |
| RS121908054 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS121908056 | Health Risk | Pathogenic | Fish-eye disease, Fish-eye disease |
| RS121908057 | Health Risk | Pathogenic | Fish-eye disease, Fish-eye disease |
| RS2544403082 | Health Risk | Pathogenic | — |
| RS2544411002 | Health Risk | Pathogenic | — |
| RS267607211 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS28942087 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS776035233 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS779114194 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS780824776 | Health Risk | Pathogenic | — |
| RS794726662 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS794726663 | Health Risk | Pathogenic | LCAT deficiency, LCAT deficiency |
| RS794726664 | Health Risk | Pathogenic | Fish-eye disease, Fish-eye disease |
| RS967875404 | Health Risk | Pathogenic | LCAT deficiency, Cardiovascular phenotype, LCAT deficiency |
| RS121908055 | Health Risk | Pathogenic/Likely pathogenic | LCAT deficiency, Norum disease, Fish-eye disease |
| RS2151319998 | Health Risk | Pathogenic/Likely pathogenic | Fish-eye disease, Norum disease, Fish-eye disease |
| RS28940888 | Health Risk | Pathogenic/Likely pathogenic | LCAT deficiency, Fish-eye disease, Norum disease |
| RS769485083 | Health Risk | Pathogenic/Likely pathogenic | — |