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Details for STXBP2:c.1586G>C, p.Arg529Pro

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7712287	7647401

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1586G>C

PROTEIN CHANGE

p.Arg529Pro

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
0.001401	0.0004567	0.000957	0.0	0.0	0.001347	0.002393	0.001325	9.817e-05

ESP
AA	EA
0.0	0.002562

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.438596	Polymorphism

DBSNP ID

1 combination linked to STXBP2:c.1586G>C, p.Arg529Pro

1 disease linked to STXBP2:c.1586G>C, p.Arg529Pro

Familial hemophagocytic lymphohistiocytosis

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