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Details for TPO:c.1978C>G, p.Gln660Glu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
1497783	1494011

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1978C>G

PROTEIN CHANGE

p.Gln660Glu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0029	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003225	6.158e-05	0.001243	0.0	0.0	0.0	0.0002292	0.001793	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.392818	Disease causing

DBSNP ID

1 combination linked to TPO:c.1978C>G, p.Gln660Glu

1 disease linked to TPO:c.1978C>G, p.Gln660Glu

Congenital hypothyroidism

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