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Details for TSC2:

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
2130190	2080189

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.007	0.0257	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001446	0.01954	0.0009544	0.0	0.0	0.0	7.975e-05	0.0006542	0.0

ESP
AA	EA
0.01888	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.163265	Polymorphism

DBSNP ID

1 combination linked to TSC2:

1 disease linked to TSC2:

Rare pervasive developmental disorder

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