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Details for UNC13D:c.460C>T, p.Arg154Trp

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73838623	75842542

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.460C>T

PROTEIN CHANGE

p.Arg154Trp

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
0.0001163	6.189e-05	0.0003476	0.0001002	0.0	0.0	9.802e-05	0.0001642	9.828e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.649775	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.460C>T, p.Arg154Trp

1 disease linked to UNC13D:c.460C>T, p.Arg154Trp

Primary hemophagocytic lymphohistiocytosis

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