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Details for DUOX2:c.2654G>T, p.Arg885Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45396158	45103960

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2654G>T

PROTEIN CHANGE

p.Arg885Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004056	0.0	0.0	0.0	0.005328	0.0	2.637e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	6.625395	Disease causing

DBSNP ID

7 combinations linked to DUOX2:c.2654G>T, p.Arg885Leu

OLI989; OLI1076; OLI1080; OLI1085; OLI1483; OLI1503; OLI1804

1 disease linked to DUOX2:c.2654G>T, p.Arg885Leu

Congenital hypothyroidism

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