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Details for STXBP2:c.1674G>T, p.Glu558Asp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7712375	7647489

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1674G>T

PROTEIN CHANGE

p.Glu558Asp

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
8.73e-06	0.0	0.0	0.0	0.0001192	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.689866	Polymorphism

DBSNP ID

1 combination linked to STXBP2:c.1674G>T, p.Glu558Asp

1 disease linked to STXBP2:c.1674G>T, p.Glu558Asp

Primary hemophagocytic lymphohistiocytosis

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