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Details for UNC13D:c.2243C>T, p.Ala748Val

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73830461	75834380

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2243C>T

PROTEIN CHANGE

p.Ala748Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.134e-05	7.137e-05	0.0	0.0	0.0005239	0.0	9.927e-05	0.0	0.0

ESP
AA	EA
0.0	0.0002332

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.184695	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.2243C>T, p.Ala748Val

1 disease linked to UNC13D:c.2243C>T, p.Ala748Val

Familial hemophagocytic lymphohistiocytosis

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