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Details for SORL1:c.2710C>T, p.Arg904Trp

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
121429346	121558637

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2710C>T

PROTEIN CHANGE

p.Arg904Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.386e-05	0.0	2.891e-05	0.0	0.0	0.0	3.517e-05	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.675384	Polymorphism

DBSNP ID

1 combination linked to SORL1:c.2710C>T, p.Arg904Trp

1 disease linked to SORL1:c.2710C>T, p.Arg904Trp

NON RARE IN EUROPE: Alzheimer disease

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