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Details for DUOXA2:p.Arg94Cys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45408396	45116198

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg94Cys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.345861	Disease causing

DBSNP ID

1 combination linked to DUOXA2:p.Arg94Cys

1 disease linked to DUOXA2:p.Arg94Cys

Congenital hypothyroidism

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