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Details for TSC1:

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135786451	132911064

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00076	0.0	0.0002024	0.01637	0.0	0.0	0.0001144	0.0009788	0.0

ESP
AA	EA
0.0	0.0006977

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.756932	Polymorphism

DBSNP ID

2 combinations linked to TSC1:

1 disease linked to TSC1:

Rare pervasive developmental disorder

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