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Details for TSC1:

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135781205	132905818

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0182	0.0	0.1282	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.02599	0.001907	0.1747	0.0	0.0001631	0.01197	0.0004671	0.02044	0.0005553

ESP
AA	EA
0.002043	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.885368	Polymorphism

DBSNP ID

4 combinations linked to TSC1:

OLI479; OLI489; OLI490; OLI491

1 disease linked to TSC1:

Rare pervasive developmental disorder

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