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Details for DUOXA2:c.671T>C, p.Leu224Ser

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45409405	45117207

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.671T>C

PROTEIN CHANGE

p.Leu224Ser

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
8.209e-06	0.0	0.0	0.0	5.59e-05	0.0	0.0	0.0	3.286e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.925673	Polymorphism

DBSNP ID

1 combination linked to DUOXA2:c.671T>C, p.Leu224Ser

1 disease linked to DUOXA2:c.671T>C, p.Leu224Ser

Congenital hypothyroidism

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