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Details for UNC13D:c.869C>T, p.Ser290Leu

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73836181	75840100

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.869C>T

PROTEIN CHANGE

p.Ser290Leu

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
6.889e-05	0.0	0.0001167	0.0	0.0	0.0	8.09e-05	0.0001664	9.853e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.190109	Disease causing

DBSNP ID

1 combination linked to UNC13D:c.869C>T, p.Ser290Leu

1 disease linked to UNC13D:c.869C>T, p.Ser290Leu

Familial hemophagocytic lymphohistiocytosis

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