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Details for DUOX2:c.2895_2898del, p.Phe966SerfsTer29

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
45393425	45101227

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TGAAC

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2895_2898del

PROTEIN CHANGE

p.Phe966SerfsTer29

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0	0.0058	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002937	0.0006211	0.001623	0.0	0.0	0.01175	0.002911	0.00343	0.00213

ESP
AA	EA
0.0002345	0.004362

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.940925	Disease causing

DBSNP ID

1 combination linked to DUOX2:c.2895_2898del, p.Phe966SerfsTer29

1 disease linked to DUOX2:c.2895_2898del, p.Phe966SerfsTer29

Congenital hypothyroidism

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