Details for FOXE1:c.23C>G, p.Pro8Arg

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
10061621997853937
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FOXE1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.23C>G
PROTEIN CHANGE p.Pro8Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.044806Polymorphism
DBSNP ID NA
1 combination linked to FOXE1:c.23C>G, p.Pro8Arg OLI1484
1 disease linked to FOXE1:c.23C>G, p.Pro8Arg Congenital hypothyroidism

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