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Details for SOX2:c.695C>A, p.Thr232Asn

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
181430843	181713055

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.695C>A

PROTEIN CHANGE

p.Thr232Asn

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
1.623e-05	0.0	0.0	0.0	0.0002187	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.425959	Disease causing

DBSNP ID

2 combinations linked to SOX2:c.695C>A, p.Thr232Asn

OLI1349; OLI1353

1 disease linked to SOX2:c.695C>A, p.Thr232Asn

Normosmic congenital hypogonadotropic hypogonadism

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