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Details for TSC2:c.2032G>A, p.Ala678Thr

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
2121870	2071869

VARIANT EFFECT

unknown

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2032G>A

PROTEIN CHANGE

p.Ala678Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0	0.0109	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00111	0.0009303	6.283e-05	0.0	0.01325	0.0	1.107e-05	0.0007581	7.342e-05

ESP
AA	EA
0.0004805	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.215578	Polymorphism

DBSNP ID

1 combination linked to TSC2:c.2032G>A, p.Ala678Thr

1 disease linked to TSC2:c.2032G>A, p.Ala678Thr

Rare pervasive developmental disorder

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