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 DUOXA1:c.503C>T, p.Thr168Met

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45412435	45120237

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.503C>T

PROTEIN CHANGE

p.Thr168Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.0015	0.0014	0.002	0.007	0.0061

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00395	0.001538	0.004713	0.004367	0.003208	0.002635	0.002946	0.005051	0.009113

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.954706	None

DBSNP ID

3 combinations linked to DUOXA1:c.503C>T, p.Thr168Met

OLI1484; OLI1496; OLI1497

1 disease linked to DUOXA1:c.503C>T, p.Thr168Met

Congenital hypothyroidism

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