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Details for VAPB:c.*1265G>C,

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
57020556	58445500

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.*1265G>C

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.1284	0.1044	0.1671	0.2718	0.0895	0.0256

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.1045	0.09457	0.1615	0.07463	0.2564	0.07241	0.08792	0.108	0.03308

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.23592	Polymorphism

DBSNP ID

1 combination linked to VAPB:c.*1265G>C,

1 disease linked to VAPB:c.*1265G>C,

Amyotrophic lateral sclerosis

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