Have questions? Visit https://www.reddit.com/r/SNPedia

FAM20A

From SNPedia

is agene
is mentioned by
EntrezGene54757
PheGenI54757
VariationViewer54757
ClinVarFAM20A
GeneCardsFAM20A
dbSNP54757
SADR54757
HugeNav54757
wikipediaFAM20A
googleFAM20A
gopubmedFAM20A
EVSFAM20A
HEFalMpFAM20A
MyGene2FAM20A
23andMeFAM20A
# SNPs9
 Max MagnitudeChromosome positionSummary
rs139620139068,537,671
rs144411158068,555,742
rs387907215068,542,796
rs587776911068,600,632
rs587776912068,542,811
rs587776913068,540,889
rs587776914068,554,829
rs587777530068,543,723
rs587777531068,554,805


[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.