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.1873C>T, p.Arg625Ter

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45398798	45106600

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1873C>T

PROTEIN CHANGE

p.Arg625Ter

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
2.386e-05	0.0	2.891e-05	0.0	0.0	0.0	3.517e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.585715	Disease causing

DBSNP ID

2 combinations linked to DUOX2:c.1873C>T, p.Arg625Ter

OLI1088; OLI1504

1 disease linked to DUOX2:c.1873C>T, p.Arg625Ter

Congenital hypothyroidism

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