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Details for UNC13D:c.169G>T, p.Glu57Ter

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73839332	75843251

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.169G>T

PROTEIN CHANGE

p.Glu57Ter

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
None	None	8.94999	Disease causing

DBSNP ID

1 combination linked to UNC13D:c.169G>T, p.Glu57Ter

1 disease linked to UNC13D:c.169G>T, p.Glu57Ter

Familial hemophagocytic lymphohistiocytosis

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