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Details for DUOX2:c.3799C>T, p.Arg126Trp

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45389484	45097286

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3799C>T

PROTEIN CHANGE

p.Arg126Trp

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
1.99e-05	0.0	0.0	0.0	0.0	0.0	4.402e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.938729	Disease causing

DBSNP ID

1 combination linked to DUOX2:c.3799C>T, p.Arg126Trp

1 disease linked to DUOX2:c.3799C>T, p.Arg126Trp

Congenital hypothyroidism

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