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Details for DUOX2:p.Ala728Thr

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45397993	45105795

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala728Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0078	0.0	0.0202	0.0	0.0239	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.008145	0.001293	0.01541	0.008342	0.0	0.002684	0.01049	0.008966	0.003397

ESP
AA	EA
0.00182	0.007911

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.302709	Polymorphism

DBSNP ID

1 combination linked to DUOX2:p.Ala728Thr

1 disease linked to DUOX2:p.Ala728Thr

Congenital hypothyroidism

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