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Details for TG:p.Arg1136Gln

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133912558	132900313

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg1136Gln

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
2.812e-05	0.0	2.904e-05	0.0	0.0	4.739e-05	4.441e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.524355	Polymorphism

DBSNP ID

1 combination linked to TG:p.Arg1136Gln

1 disease linked to TG:p.Arg1136Gln

Congenital hypothyroidism

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