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Details for JAG1:p.Ile1021Thr

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10621568	10640920

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ile1021Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.974346	Polymorphism

DBSNP ID

1 combination linked to JAG1:p.Ile1021Thr

1 disease linked to JAG1:p.Ile1021Thr

Congenital hypothyroidism

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