FAM20A Chromosome 17
FAM20A golgi associated secretory pathway pseudokinase
Upload your DNA to see your personal genotypes for variants in FAM20A.
What This Gene Does
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Golgi associated kinase family
Locus Type
gene with protein product
Location
17q24.2
Ensembl
ENSG00000108950
Associated Conditions (1)
Amelogenesis imperfecta type 1G
Key Variants
RS143371801
Conflicting classifications of pathogenicity
Health Risk
RS376821996
Conflicting classifications of pathogenicity
Health Risk
RS377240666
Conflicting classifications of pathogenicity
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS771807792
Conflicting classifications of pathogenicity
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS778292216
Conflicting classifications of pathogenicity
Health Risk
RS986099
Conflicting classifications of pathogenicity
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS1156573190
Likely pathogenic
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS149970399
Likely pathogenic
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS1568724130
Likely pathogenic
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS2086254952
Likely pathogenic
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS2143526006
Likely pathogenic
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
Health Risk
RS2143962532
Likely pathogenic
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143371801 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376821996 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377240666 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS771807792 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS778292216 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS986099 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS1156573190 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS149970399 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS1568724130 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2086254952 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2143526006 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2143962532 | Health Risk | Likely pathogenic | — |
| RS2509578117 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2509578283 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS762905130 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS139620139 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS144411158 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2086193164 | Health Risk | Pathogenic | — |
| RS2143442272 | Health Risk | Pathogenic | — |
| RS2143495812 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2143965549 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2509698486 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS387907215 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS587776911 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS587776912 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS587776913 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS587776914 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS587777530 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS587777531 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS750880244 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS760163489 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS762205955 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS766926330 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS746063338 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |