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Details for DUOX2:p.Glu1546Gly

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45386358	45094160

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Glu1546Gly

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
0.0007637	0.0	5.782e-05	0.003573	0.0	0.001201	0.001073	0.0009772	0.0

ESP
AA	EA
0.0	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.804949	Disease causing

DBSNP ID

1 combination linked to DUOX2:p.Glu1546Gly

1 disease linked to DUOX2:p.Glu1546Gly

Congenital hypothyroidism

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