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Details for GLIS3:c.31C>T, p.His11Tyr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
4286395	4286395

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.31C>T

PROTEIN CHANGE

p.His11Tyr

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
0.0001043	0.0	0.0	0.0	0.0	0.0	9.726e-05	0.0001653	0.0004575

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.230815	Polymorphism

DBSNP ID

1 combination linked to GLIS3:c.31C>T, p.His11Tyr

1 disease linked to GLIS3:c.31C>T, p.His11Tyr

Congenital hypothyroidism

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