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Details for SOX9:c.710dup, p.Pro238ThrfsTer14

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
72123563	74127424

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

AC

TRANSCRIPT

N.A.

CDNA CHANGE

c.710dup

PROTEIN CHANGE

p.Pro238ThrfsTer14

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	-0.208548	Polymorphism

DBSNP ID

1 combination linked to SOX9:c.710dup, p.Pro238ThrfsTer14

1 disease linked to SOX9:c.710dup, p.Pro238ThrfsTer14

46,XY disorder of sex development

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