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Details for DUOXA2:c.413dupA, p.Tyr138Ter

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45408786	45116588

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

AA

TRANSCRIPT

N.A.

CDNA CHANGE

c.413dupA

PROTEIN CHANGE

p.Tyr138Ter

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
0.0002365	0.0	0.0	0.0	0.003281	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.877374	Disease causing

DBSNP ID

2 combinations linked to DUOXA2:c.413dupA, p.Tyr138Ter

OLI1091; OLI994

1 disease linked to DUOXA2:c.413dupA, p.Tyr138Ter

Congenital hypothyroidism

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