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Details for PAX8:p.Gly78Ser

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
114002161	113244584

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gly78Ser

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.000679	Disease causing

DBSNP ID

1 combination linked to PAX8:p.Gly78Ser

1 disease linked to PAX8:p.Gly78Ser

Congenital hypothyroidism

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