SACK1H Chromosome 8
Scaffolding CK1 anchoring protein H
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What This Gene Does
The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Scaffolding anchor of CK1 domain containing"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000180921
Associated Conditions (4)
FAM83H-related disorder
Amelogenesis imperfecta
type 3A
hypocalcification type
Key Variants
RS189033490
Conflicting classifications of pathogenicity
FAM83H-related disorder, Amelogenesis imperfecta, type 3A
Health Risk
RS312262803
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, hypocalcification type, FAM83H-related disorder
Health Risk
RS137854435
Pathogenic
Amelogenesis imperfecta, hypocalcification type, type 3A
Health Risk
RS137854436
Pathogenic
Amelogenesis imperfecta, type 3A, FAM83H-related disorder
Health Risk
RS137854437
Pathogenic
Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta
Health Risk
RS137854438
Pathogenic
Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta
Health Risk
RS137854439
Pathogenic
Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta
Health Risk
RS137854441
Pathogenic
Amelogenesis imperfecta, hypocalcification type, type 3A
Health Risk
RS137854442
Pathogenic
Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta
Health Risk
RS137854443
Pathogenic
Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta
Health Risk
RS137854444
Pathogenic
Amelogenesis imperfecta, hypocalcification type, type 3A
Health Risk
RS1554622736
Pathogenic
Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS189033490 | Health Risk | Conflicting classifications of pathogenicity | FAM83H-related disorder, Amelogenesis imperfecta, type 3A |
| RS312262803 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, hypocalcification type, FAM83H-related disorder |
| RS137854435 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, type 3A |
| RS137854436 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, FAM83H-related disorder |
| RS137854437 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS137854438 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS137854439 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS137854441 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, type 3A |
| RS137854442 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS137854443 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS137854444 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, type 3A |
| RS1554622736 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS1554623490 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS1818377152 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS2129668758 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS2129674125 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS2129674608 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS2538662258 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS2538663573 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypocalcification type, Amelogenesis imperfecta |
| RS387907056 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS796065022 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS796065023 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3A, Amelogenesis imperfecta |
| RS137854440 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta, hypocalcification type, type 3A |