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Details for SOX10:c.1038_1039del, p.Pro347ThrfsTer54

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
38369863	37973856

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

GGT

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1038_1039del

PROTEIN CHANGE

p.Pro347ThrfsTer54

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	3.333563	None

DBSNP ID

1 combination linked to SOX10:c.1038_1039del, p.Pro347ThrfsTer54

1 disease linked to SOX10:c.1038_1039del, p.Pro347ThrfsTer54

Hypogonadotropic hypogonadism with partial puberty phenotype

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