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Details for DUOX2:c.3367G>A, p.Ala1123Thr

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45391908	45099710

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3367G>A

PROTEIN CHANGE

p.Ala1123Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0048	0.0166	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001038	0.0139	0.0003758	0.0	0.0008698	0.0	1.758e-05	0.0004888	3.266e-05

ESP
AA	EA
0.01388	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.803628	Polymorphism

DBSNP ID

1 combination linked to DUOX2:c.3367G>A, p.Ala1123Thr

1 disease linked to DUOX2:c.3367G>A, p.Ala1123Thr

Congenital hypothyroidism

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