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Details for APC:c.3468_3470delAGA, p.Glu1157del

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
112174750	112839053

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TGAA

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3468_3470delAGA

PROTEIN CHANGE

p.Glu1157del

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0174	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001008	0.01276	0.0006652	0.0	0.0	0.0	9.699e-05	0.001634	6.535e-05

ESP
AA	EA
0.01384	0.0003635

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.015569	Polymorphism

DBSNP ID

1 combination linked to APC:c.3468_3470delAGA, p.Glu1157del

1 disease linked to APC:c.3468_3470delAGA, p.Glu1157del

Familial adenomatous polyposis

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