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Details for DUOX2:c.1588A>T, p.Lys530Ter

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45399648	45107450

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1588A>T

PROTEIN CHANGE

p.Lys530Ter

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
0.000676	0.0	0.0	0.0	0.009188	0.0	0.0	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.547134	Disease causing

DBSNP ID

2 combinations linked to DUOX2:c.1588A>T, p.Lys530Ter

OLI1487; OLI1491

1 disease linked to DUOX2:c.1588A>T, p.Lys530Ter

Congenital hypothyroidism

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