Details for TBX1:c.244G>A, p.Ala82Thr

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
1974863719761114
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TBX1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.244G>A
PROTEIN CHANGE p.Ala82Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.921481Polymorphism
DBSNP ID NA
1 combination linked to TBX1:c.244G>A, p.Ala82Thr OLI1492
1 disease linked to TBX1:c.244G>A, p.Ala82Thr Congenital hypothyroidism
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