Details for JAG1:c.133G>C, p.Val45Leu

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
1065360310672955
VARIANT EFFECT None
ANNOTATION FLAG None
GENE JAG1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_000214.3
CDNA CHANGE c.133G>C
PROTEIN CHANGE p.Val45Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.497544Disease causing
DBSNP ID NA
1 combination linked to JAG1:c.133G>C, p.Val45Leu OLI1079
1 disease linked to JAG1:c.133G>C, p.Val45Leu Congenital hypothyroidism
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