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Details for APOE:c.388T>C, p.Cys130Arg

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
45411941	44908684

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.388T>C

PROTEIN CHANGE

p.Cys130Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.1506	0.2678	0.1037	0.0863	0.1551	0.0869

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.1385	0.2238	0.1026	0.115	0.0874	0.2087	0.1501	0.1312	0.1004

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.810963	Polymorphism

DBSNP ID

2 combinations linked to APOE:c.388T>C, p.Cys130Arg

OLI1470; OLI1471

1 disease linked to APOE:c.388T>C, p.Cys130Arg

NON RARE IN EUROPE: Alzheimer disease

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