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Details for STXBP2:c.592A>C, p.Thr198Pro

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7706933	7642047

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.592A>C

PROTEIN CHANGE

p.Thr198Pro

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
7.982e-06	0.0	0.0	0.0	0.0001089	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.39537	Polymorphism

DBSNP ID

1 combination linked to STXBP2:c.592A>C, p.Thr198Pro

1 disease linked to STXBP2:c.592A>C, p.Thr198Pro

Primary hemophagocytic lymphohistiocytosis

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