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Details for STX11:c.9C>A, p.Asp3Glu

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
144507773	144186636

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.9C>A

PROTEIN CHANGE

p.Asp3Glu

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
1.99e-05	0.0	0.0	0.0	0.0	0.0	4.404e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.240854	Polymorphism

DBSNP ID

1 combination linked to STX11:c.9C>A, p.Asp3Glu

1 disease linked to STX11:c.9C>A, p.Asp3Glu

Familial hemophagocytic lymphohistiocytosis

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