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Details for FOXE1:p.Ala248Gly

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
100616939	97854657

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala248Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001966	0.002203	0.00142	0.003361	0.0	0.0005263	0.003182	0.002439	0.0004427

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.207346	Polymorphism

DBSNP ID

1 combination linked to FOXE1:p.Ala248Gly

1 disease linked to FOXE1:p.Ala248Gly

Congenital hypothyroidism

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