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.2030T>C, p.Ile677Thr

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73830760	75834679

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2030T>C

PROTEIN CHANGE

p.Ile677Thr

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
1.2e-05	0.0	2.894e-05	0.0	0.0	0.0	0.0	0.0	6.535e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.688882	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.2030T>C, p.Ile677Thr

1 disease linked to UNC13D:c.2030T>C, p.Ile677Thr

Familial hemophagocytic lymphohistiocytosis

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