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Details for SCUBE2:p.Asp371Tyr

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
9077436	9055889

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asp371Tyr

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
3.582e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0001631	0.0002613

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.469549	Polymorphism

DBSNP ID

1 combination linked to SCUBE2:p.Asp371Tyr

1 disease linked to SCUBE2:p.Asp371Tyr

Juvenile amyotrophic lateral sclerosis

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