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Details for DUOXA2:c.738C>A, p.Tyr246Ter

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45409472	45117274

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.738C>A

PROTEIN CHANGE

p.Tyr246Ter

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
0.0001431	0.0	0.0	0.0	0.001861	0.0	9.309e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.571633	Disease causing

DBSNP ID

2 combinations linked to DUOXA2:c.738C>A, p.Tyr246Ter

1 disease linked to DUOXA2:c.738C>A, p.Tyr246Ter

Congenital hypothyroidism

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