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Details for STX11:c.221C>T, p.Thr74Met

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
144507985	144186848

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.221C>T

PROTEIN CHANGE

p.Thr74Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.0	0.0	0.0	0.0	0.0184

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0008723	0.0	0.0	0.0	0.0	0.0	0.0	0.0004916	0.006992

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.17498	Polymorphism

DBSNP ID

1 combination linked to STX11:c.221C>T, p.Thr74Met

1 disease linked to STX11:c.221C>T, p.Thr74Met

Familial hemophagocytic lymphohistiocytosis

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