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Details for UNC13D:c.1579C>T, p.Arg527Trp

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73831953	75835872

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1579C>T

PROTEIN CHANGE

p.Arg527Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0192	0.0711	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003947	0.0563	0.001214	0.0	0.0	0.0	0.0001936	0.0004892	0.0003266

ESP
AA	EA
0.05243	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.641445	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.1579C>T, p.Arg527Trp

1 disease linked to UNC13D:c.1579C>T, p.Arg527Trp

Familial hemophagocytic lymphohistiocytosis

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