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Details for TG:p.Arg1250Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133919047	132906802

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg1250Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0014	0.0	0.004	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002408	0.0003694	0.001099	0.0001985	0.0	0.0005094	0.004338	0.002611	0.001274

ESP
AA	EA
0.0006809	0.004419

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Unknown	0.586934	Polymorphism

DBSNP ID

1 combination linked to TG:p.Arg1250Leu

1 disease linked to TG:p.Arg1250Leu

Congenital hypothyroidism

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