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Details for TG:c.993G>C, p.Gln331His

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133895162	132882917

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.993G>C

PROTEIN CHANGE

p.Gln331His

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
0.0002546	0.0	0.0004048	0.0	0.0	9.239e-05	0.0004133	0.000163	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.917342	Polymorphism

DBSNP ID

1 combination linked to TG:c.993G>C, p.Gln331His

1 disease linked to TG:c.993G>C, p.Gln331His

Congenital hypothyroidism

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