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Details for UNC13D:c.227C>T, p.Thr76Met

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73839274	75843193

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.227C>T

PROTEIN CHANGE

p.Thr76Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0038	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004004	0.005753	5.788e-05	0.0	0.0	0.0	3.547e-05	0.000164	0.0

ESP
AA	EA
0.006809	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.002775	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.227C>T, p.Thr76Met

1 disease linked to UNC13D:c.227C>T, p.Thr76Met

Familial hemophagocytic lymphohistiocytosis

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