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Details for STXBP2:c.11C>T, p.Ser4Leu

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7702046	7637160

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.11C>T

PROTEIN CHANGE

p.Ser4Leu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.027342	Polymorphism

DBSNP ID

1 combination linked to STXBP2:c.11C>T, p.Ser4Leu

1 disease linked to STXBP2:c.11C>T, p.Ser4Leu

Primary hemophagocytic lymphohistiocytosis

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