This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for UNC13D:c.2896C>T, p.Arg966Trp

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73826167	75830086

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2896C>T

PROTEIN CHANGE

p.Arg966Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0	0.0043	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004406	0.001121	0.001956	0.004256	0.0	0.004861	0.007631	0.005381	8.003e-05

ESP
AA	EA
0.001142	0.007105

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.677342	Polymorphism

DBSNP ID

3 combinations linked to UNC13D:c.2896C>T, p.Arg966Trp

OLI531; OLI533; OLI540

1 disease linked to UNC13D:c.2896C>T, p.Arg966Trp

Familial hemophagocytic lymphohistiocytosis

Found any issues with the data on this page? Report this entry.