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Details for TYK2:c.157G>A,

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
10488926	10378250

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.157G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0038	0.0	0.0058	0.0	0.0099	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.007351	0.001981	0.003703	0.00529	5.445e-05	0.004343	0.01094	0.008347	0.008069

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.611311	Polymorphism

DBSNP ID

1 combination linked to TYK2:c.157G>A,

1 disease linked to TYK2:c.157G>A,

Primary immunodeficiency

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