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Details for DUOX2:c.2894C>T, p.Ser965Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45393430	45101232

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2894C>T

PROTEIN CHANGE

p.Ser965Leu

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
7.626e-05	0.0	0.0	0.0	0.0004896	0.0	7.1e-05	0.0001644	3.293e-05

ESP
AA	EA
0.0	0.0002327

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.411988	Polymorphism

DBSNP ID

1 combination linked to DUOX2:c.2894C>T, p.Ser965Leu

1 disease linked to DUOX2:c.2894C>T, p.Ser965Leu

Congenital hypothyroidism

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