Mutation details:

cDNA level identifier:

c.91-2A>G

Genome level identifier:

g.11032A>G

Archive identifier/Other designation:

IVS2-2A>G

Reference, alternative allele:

A, G

Genetic location (hg19):

chr1:8025382 (not available on ExAC)

Gene name:

DJ1

Consequence:

splice site

Pathogenicity scoring:

probably pathogenic

CADD score:

50

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-DJ1

Number of all included cases:

1 homozygous (1 in total).

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