Details for AMELX:c.208C>A, p.Pro70Thr

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
1131668911298569
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AMELX
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_182680.1
CDNA CHANGE c.208C>A
PROTEIN CHANGE p.Pro70Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.472094Disease causing
DBSNP ID NA
1 combination linked to AMELX:c.208C>A, p.Pro70Thr OLI1734
1 disease linked to AMELX:c.208C>A, p.Pro70Thr Amelogenesis imperfecta
Found any issues with the data on this page? Report this entry.