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Details for DUOX2:c.127A>T, p.Asn43Tyr

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45405218	45113020

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.127A>T

PROTEIN CHANGE

p.Asn43Tyr

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
3.192e-05	0.0	0.0	0.0	0.0004357	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.232061	Disease causing

DBSNP ID

1 combination linked to DUOX2:c.127A>T, p.Asn43Tyr

1 disease linked to DUOX2:c.127A>T, p.Asn43Tyr

Congenital hypothyroidism

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