Mutation details:

cDNA level identifier:

c.252+8dupA

Genome level identifier:

g.15122dupA

Archive identifier/Other designation:

IVS4+3insA

Reference, alternative allele:

A, AA

Genetic location (hg19):

chr1:8029467

Gene name:

DJ1

Consequence:

splice site

Pathogenicity scoring:

possibly pathogenic

CADD score:

16

Positive functional evidence:

18722801

Diseases reported for this mutation:

PARK-DJ1

Number of all included cases:

1 compound heterozygous (1 in total).

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