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Details for DUOX2:c.505C>T, p.Arg169Trp

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45403974	45111776

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.505C>T

PROTEIN CHANGE

p.Arg169Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001546	7.789e-05	3.054e-05	0.0	0.001935	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.234626	Disease causing

DBSNP ID

1 combination linked to DUOX2:c.505C>T, p.Arg169Trp

1 disease linked to DUOX2:c.505C>T, p.Arg169Trp

Congenital hypothyroidism

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