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Details for UNC13D:c.1036G>A, p.Asp346Asn

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73835939	75839858

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1036G>A

PROTEIN CHANGE

p.Asp346Asn

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.963334	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.1036G>A, p.Asp346Asn

1 disease linked to UNC13D:c.1036G>A, p.Asp346Asn

Familial hemophagocytic lymphohistiocytosis

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