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.