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Details for DUOX2:c.1097C>T, p.Ala366Val

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45402122	45109924

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1097C>T

PROTEIN CHANGE

p.Ala366Val

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
7.953e-06	0.0	0.0	0.0	0.0001087	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.42767	Disease causing

DBSNP ID

2 combinations linked to DUOX2:c.1097C>T, p.Ala366Val

OLI1083; OLI1501

1 disease linked to DUOX2:c.1097C>T, p.Ala366Val

Congenital hypothyroidism

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