HYCC1 Chromosome 7
Hyccin PI4KA lipid kinase complex subunit 1
Upload your DNA to see your personal genotypes for variants in HYCC1.
What This Gene Does
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
PI4KA lipid kinase complex
Locus Type
gene with protein product
Location
7p15.3
Ensembl
ENSG00000122591
Associated Conditions (3)
Hypomyelination and Congenital Cataract
Inborn genetic diseases
HYCC1-related disorder
Key Variants
RS140544023
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Inborn genetic diseases, Hypomyelination and Congenital Cataract
Health Risk
RS143894913
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS146913158
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, HYCC1-related disorder, Hypomyelination and Congenital Cataract
Health Risk
RS148453182
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, HYCC1-related disorder, Hypomyelination and Congenital Cataract
Health Risk
RS199912375
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS200916070
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS201252505
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS373948210
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS753315808
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Inborn genetic diseases, Hypomyelination and Congenital Cataract
Health Risk
RS753846865
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS759045816
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS768075744
Conflicting classifications of pathogenicity
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140544023 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Inborn genetic diseases, Hypomyelination and Congenital Cataract |
| RS143894913 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS146913158 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, HYCC1-related disorder, Hypomyelination and Congenital Cataract |
| RS148453182 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, HYCC1-related disorder, Hypomyelination and Congenital Cataract |
| RS199912375 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS200916070 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS201252505 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS373948210 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS753315808 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Inborn genetic diseases, Hypomyelination and Congenital Cataract |
| RS753846865 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS759045816 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS768075744 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS1131691757 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS139065525 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS1562502139 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2534435171 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2534440798 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2534462531 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS766925936 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS1784456045 | Health Risk | Pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS72549405 | Health Risk | Pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS72549406 | Health Risk | Pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS72549407 | Health Risk | Pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS886043139 | Health Risk | Pathogenic | — |
| RS1784456196 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2128200575 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS755869015 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS780540757 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |