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Details for APEX1:c*2A>T,

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
20925669	20457510

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c*2A>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0	0.0014	0.0	0.007	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003364	0.0003708	0.0009252	0.005261	0.0	0.001833	0.005317	0.003262	0.00294

ESP
AA	EA
0.0006809	0.006628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.189458	Polymorphism

DBSNP ID

1 combination linked to APEX1:c*2A>T,

1 disease linked to APEX1:c*2A>T,

Amyotrophic lateral sclerosis

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