Mutation details:

Protein level identifier:

p.Pro158del

cDNA level identifier:

c.471_473delGCC

Genome level identifier:

g.30665_30667delGCC

Reference, alternative allele:

GGCC, G

Genetic location (hg19):

chr1:8045014

Gene name:

DJ1

Consequence:

in frame indel

Pathogenicity scoring:

probably pathogenic

CADD score:

16

Positive functional evidence:

20806408; 23241025; 24912681; 25058424

Diseases reported for this mutation:

PARK-DJ1

Number of all included cases:

1 homozygous (1 in total).

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