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Details for DUOX2:c.1428C>A, p.Asn476Lys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45400391	45108193

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1428C>A

PROTEIN CHANGE

p.Asn476Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0	0.0069	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003859	0.0	0.0	0.0	0.005275	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.947309	Polymorphism

DBSNP ID

4 combinations linked to DUOX2:c.1428C>A, p.Asn476Lys

OLI1081; OLI1084; OLI1499; OLI1502

1 disease linked to DUOX2:c.1428C>A, p.Asn476Lys

Congenital hypothyroidism

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