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Details for TPO:c.1477G>A, p.Gly493Ser

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
1488506	1484734

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1477G>A

PROTEIN CHANGE

p.Gly493Ser

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
5.57e-05	0.0	8.674e-05	0.0	0.0	0.0	9.679e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.861068	Disease causing

DBSNP ID

1 combination linked to TPO:c.1477G>A, p.Gly493Ser

1 disease linked to TPO:c.1477G>A, p.Gly493Ser

Congenital hypothyroidism

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