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Details for UNC13D:c.1389+1G>A,

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73832419	75836338

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1389+1G>A

PROTEIN CHANGE

None

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
7.199e-05	0.0	0.0	0.0	0.0	0.0	0.0001507	0.0001638	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.054694	Disease causing

DBSNP ID

1 combination linked to UNC13D:c.1389+1G>A,

1 disease linked to UNC13D:c.1389+1G>A,

Familial hemophagocytic lymphohistiocytosis

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