This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for DUOX2:c.3632G>A, p.Arg1211His

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45389873	45097675

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3632G>A

PROTEIN CHANGE

p.Arg1211His

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
6.364e-05	6.155e-05	0.0	0.0	0.0003262	0.0	7.036e-05	0.0	3.266e-05

ESP
AA	EA
0.0002275	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.413523	Disease causing

DBSNP ID

2 combinations linked to DUOX2:c.3632G>A, p.Arg1211His

OLI1481; OLI562

1 disease linked to DUOX2:c.3632G>A, p.Arg1211His

Congenital hypothyroidism

Found any issues with the data on this page? Report this entry.