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Details for STXBP2:c.1034C>T, p.Thr345Met

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7708058	7643172

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1034C>T

PROTEIN CHANGE

p.Thr345Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0046	0.0015	0.0072	0.0	0.0139	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01078	0.002339	0.00619	0.02431	5.438e-05	0.005883	0.01633	0.01565	0.00428

ESP
AA	EA
0.003404	0.01616

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.56434	Polymorphism

DBSNP ID

3 combinations linked to STXBP2:c.1034C>T, p.Thr345Met

OLI535; OLI536; OLI546

1 disease linked to STXBP2:c.1034C>T, p.Thr345Met

Familial hemophagocytic lymphohistiocytosis

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