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Details for SOX2:c.330C>A, p.Tyr110Ter

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
181430478	181712690

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.330C>A

PROTEIN CHANGE

p.Tyr110Ter

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
None	None	6.692188	Disease causing

DBSNP ID

1 combination linked to SOX2:c.330C>A, p.Tyr110Ter

1 disease linked to SOX2:c.330C>A, p.Tyr110Ter

Normosmic congenital hypogonadotropic hypogonadism

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