Mutation details:

Protein level identifier:

p.Ala107Pro

cDNA level identifier:

c.319G>C

Genome level identifier:

g.16670G>C

Reference, alternative allele:

G, C

Genetic location (hg19):

chr1:8031020 (not available on ExAC)

Gene name:

DJ1

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

28

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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