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Details for TG:c.2381G>T, p.Gly794Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133900433	132888188

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2381G>T

PROTEIN CHANGE

p.Gly794Val

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
7.961e-06	0.0	5.786e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	1.768153	Polymorphism

DBSNP ID

1 combination linked to TG:c.2381G>T, p.Gly794Val

1 disease linked to TG:c.2381G>T, p.Gly794Val

Congenital hypothyroidism

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