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Details for SOX10:c.967G>A, p.Ala323Thr

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
38369936	37973929

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.967G>A

PROTEIN CHANGE

p.Ala323Thr

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
4.04e-06	0.0	0.0	0.0	0.0	0.0	8.839e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.127108	Disease causing

DBSNP ID

1 combination linked to SOX10:c.967G>A, p.Ala323Thr

1 disease linked to SOX10:c.967G>A, p.Ala323Thr

Normosmic congenital hypogonadotropic hypogonadism

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