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Details for JAG1:c.526G>A, p.Val176Ile

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10639284	10658636

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.526G>A

PROTEIN CHANGE

p.Val176Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004137	0.0	0.0002602	0.0	0.00473	0.0	3.518e-05	0.0003258	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.158887	Polymorphism

DBSNP ID

3 combinations linked to JAG1:c.526G>A, p.Val176Ile

OLI1078; OLI1094; OLI1497

1 disease linked to JAG1:c.526G>A, p.Val176Ile

Congenital hypothyroidism

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