Details for HES1:c.816C>A, p.Asp272Glu

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
193855995194138206
VARIANT EFFECT None
ANNOTATION FLAG None
GENE HES1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.816C>A
PROTEIN CHANGE p.Asp272Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.401554Polymorphism
DBSNP ID NA
1 combination linked to HES1:c.816C>A, p.Asp272Glu OLI1505
1 disease linked to HES1:c.816C>A, p.Asp272Glu Congenital hypothyroidism
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