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Details for SOX3:c.720_740del,

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
139586485	140504320

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

GGCAGCGGCTGCGGCCGCGGCA

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.720_740del

PROTEIN CHANGE

None

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	1.578093	None

DBSNP ID

1 combination linked to SOX3:c.720_740del,

1 disease linked to SOX3:c.720_740del,

Non-acquired combined pituitary hormone deficiency

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