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Details for TPO:c.2386G>A, p.Asp796Asn

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
1500537	1496765

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2386G>A

PROTEIN CHANGE

p.Asp796Asn

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
3.979e-06	0.0	0.0	0.0	0.0	0.0	8.803e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	5.702216	Disease causing

DBSNP ID

1 combination linked to TPO:c.2386G>A, p.Asp796Asn

1 disease linked to TPO:c.2386G>A, p.Asp796Asn

Congenital hypothyroidism

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