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Details for DUOX2:c.3791G>A, p.Ser1264Asn

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45389492	45097294

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3791G>A

PROTEIN CHANGE

p.Ser1264Asn

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.793672	Disease causing

DBSNP ID

1 combination linked to DUOX2:c.3791G>A, p.Ser1264Asn

1 disease linked to DUOX2:c.3791G>A, p.Ser1264Asn

Congenital hypothyroidism

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