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Details for STXBP2:c.568C>T, p.Arg190Cys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7706729	7641843

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.568C>T

PROTEIN CHANGE

p.Arg190Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004828	0.0	7.947e-05	0.002371	0.0	6.469e-05	0.0007864	0.00045	0.0001291

ESP
AA	EA
0.0	0.0003662

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.63314	Disease causing

DBSNP ID

1 combination linked to STXBP2:c.568C>T, p.Arg190Cys

1 disease linked to STXBP2:c.568C>T, p.Arg190Cys

Familial hemophagocytic lymphohistiocytosis

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