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Details for DUOXA2:c.93T>G, p.Phe31Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45406896	45114698

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.93T>G

PROTEIN CHANGE

p.Phe31Leu

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
0.0002943	0.0	0.0	0.0	0.004023	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.60444	Disease causing

DBSNP ID

1 combination linked to DUOXA2:c.93T>G, p.Phe31Leu

1 disease linked to DUOXA2:c.93T>G, p.Phe31Leu

Congenital hypothyroidism

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