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Details for JAG1:p.Arg744Gln

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10625624	10644976

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg744Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0029	0.0	0.002	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009464	0.0001845	0.001041	0.0	0.0	0.0004158	0.001204	0.001629	0.001404

ESP
AA	EA
0.000227	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.489046	Polymorphism

DBSNP ID

1 combination linked to JAG1:p.Arg744Gln

1 disease linked to JAG1:p.Arg744Gln

Congenital hypothyroidism

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