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Details for FOXI1:p.Gly258Glu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
169535251	170108247

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gly258Glu

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
8.357e-05	6.158e-05	0.0	0.0	0.0	0.0	0.0001672	0.0001631	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.629966	None

DBSNP ID

1 combination linked to FOXI1:p.Gly258Glu

1 disease linked to FOXI1:p.Gly258Glu

Pendred syndrome

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