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Details for APC2:c.932C>T, p.Ser311Leu

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
1456967	1456968

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.932C>T

PROTEIN CHANGE

p.Ser311Leu

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
7.523e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	4.441e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.145307	Polymorphism

DBSNP ID

1 combination linked to APC2:c.932C>T, p.Ser311Leu

1 disease linked to APC2:c.932C>T, p.Ser311Leu

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