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Details for TG:c.1958G>A, p.Gly653Asp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133899575	132887330

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1958G>A

PROTEIN CHANGE

p.Gly653Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.0	0.0043	0.0	0.0089	0.0061

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01415	0.002462	0.005907	0.06823	0.0	0.02147	0.01579	0.01768	0.008623

ESP
AA	EA
0.003631	0.01372

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.010597	Polymorphism

DBSNP ID

2 combinations linked to TG:c.1958G>A, p.Gly653Asp

OLI1021; OLI1025

1 disease linked to TG:c.1958G>A, p.Gly653Asp

Congenital hypothyroidism

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