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Details for STXBP2:c.911C>T, p.Thr304Met

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7707660	7642774

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.911C>T

PROTEIN CHANGE

p.Thr304Met

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
8.387e-05	0.0	5.789e-05	0.0	0.0	0.0	0.0001592	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.698531	Polymorphism

DBSNP ID

1 combination linked to STXBP2:c.911C>T, p.Thr304Met

1 disease linked to STXBP2:c.911C>T, p.Thr304Met

Familial hemophagocytic lymphohistiocytosis

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