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Details for IRF8:c.287C>T, p.Thr96Met

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
85942708	85909102

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.287C>T

PROTEIN CHANGE

p.Thr96Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007516	0.0	5.782e-05	0.008631	0.0	0.002911	0.0002725	0.0009778	0.0

ESP
AA	EA
0.0	0.000814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.835917	Disease causing

DBSNP ID

1 combination linked to IRF8:c.287C>T, p.Thr96Met

1 disease linked to IRF8:c.287C>T, p.Thr96Met

Primary hemophagocytic lymphohistiocytosis

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