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Details for GBA:p.Arg368His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
155206157	155236366

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg368His

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
5.965e-05	0.0	0.0	0.0	0.0	0.0	0.0001055	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.847599	Disease causing

DBSNP ID

3 combinations linked to GBA:p.Arg368His

OLI1309; OLI1310; OLI1311

2 diseases linked to GBA:p.Arg368His

NON RARE IN EUROPE: Alzheimer disease; Amyotrophic lateral sclerosis

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