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Details for PSEN1:c.868+16G>A,

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
73664853	73198145

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.868+16G>A

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.822155	Polymorphism

DBSNP ID

2 combinations linked to PSEN1:c.868+16G>A,

OLI1470; OLI1471

1 disease linked to PSEN1:c.868+16G>A,

NON RARE IN EUROPE: Alzheimer disease

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