FAM20A
From SNPedia
| is a | gene |
| is | mentioned by |
| EntrezGene | 54757 |
| PheGenI | 54757 |
| VariationViewer | 54757 |
| ClinVar | FAM20A |
| GeneCards | FAM20A |
| dbSNP | 54757 |
| Diseases | FAM20A |
| SADR | 54757 |
| HugeNav | 54757 |
| wikipedia | FAM20A |
| FAM20A | |
| gopubmed | FAM20A |
| EVS | FAM20A |
| HEFalMp | FAM20A |
| MyGene2 | FAM20A |
| 23andMe | FAM20A |
| # SNPs | 9 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs139620139 | 0 | 68,537,671 | |
| rs144411158 | 0 | 68,555,742 | |
| rs387907215 | 0 | 68,542,796 | |
| rs587776911 | 0 | 68,600,632 | |
| rs587776912 | 0 | 68,542,811 | |
| rs587776913 | 0 | 68,540,889 | |
| rs587776914 | 0 | 68,554,829 | |
| rs587777530 | 0 | 68,543,723 | |
| rs587777531 | 0 | 68,554,805 |
[PMID 21549343] A homozygous nonsense mutation in exon 2 of FAM20A underlies Amelogenesis imperfecta (AI) disorders of biomineralization resulting from failure of normal enamel formation. The mutation is a single homozygous C>T transition (genomic DNA: Chr17[NCBI 36]:g.64063478C>T; cDNA: NM_017565.2:c.406C>T), which resulted in the homozygous nonsense mutation p.Arg136X.
