Details for WDR72:c.1283T>G, p.Ile428Ser

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
5399725053705053
VARIANT EFFECT None
ANNOTATION FLAG None
GENE WDR72
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_182758.4
CDNA CHANGE c.1283T>G
PROTEIN CHANGE p.Ile428Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.956743Polymorphism
DBSNP ID NA
1 combination linked to WDR72:c.1283T>G, p.Ile428Ser OLI1736
1 disease linked to WDR72:c.1283T>G, p.Ile428Ser Amelogenesis imperfecta

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