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Details for DUOX2:c.2597T>G, p.Met866Arg

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45396215	45104017

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.2597T>G

PROTEIN CHANGE

p.Met866Arg

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
9.941e-05	6.152e-05	0.0002024	0.0	0.0	0.0	0.0001143	0.0006517	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.495485	Disease causing

DBSNP ID

1 combination linked to DUOX2:c.2597T>G, p.Met866Arg

1 disease linked to DUOX2:c.2597T>G, p.Met866Arg

Congenital hypothyroidism

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