Mutation details:

cDNA level identifier:

c.322+4A>C

Genome level identifier:

g.16677A>C

Archive identifier/Other designation:

IVS5+4A>C

Reference, alternative allele:

A, C

Genetic location (hg19):

chr1:8031027 (not available on ExAC)

Gene name:

DJ1

Consequence:

unknown effect

Pathogenicity scoring:

possibly pathogenic

CADD score:

2

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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