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Details for UNC13D:c.1241G>T, p.Arg414Leu

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73832710	75836629

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1241G>T

PROTEIN CHANGE

p.Arg414Leu

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
1.197e-05	0.0	0.0	0.0	0.0001632	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.57896	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.1241G>T, p.Arg414Leu

1 disease linked to UNC13D:c.1241G>T, p.Arg414Leu

Primary hemophagocytic lymphohistiocytosis

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