This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for STXBP2:c.795-4C>T,

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7707311	7642425

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.795-4C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0044	0.0008	0.0014	0.0	0.0189	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01178	0.004553	0.003527	0.004365	0.0	0.01216	0.0199	0.01141	0.004083

ESP
AA	EA
0.00522	0.01802

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.227189	Polymorphism

DBSNP ID

1 combination linked to STXBP2:c.795-4C>T,

1 disease linked to STXBP2:c.795-4C>T,

Familial hemophagocytic lymphohistiocytosis

Found any issues with the data on this page? Report this entry.