Mutation details:

Protein level identifier:

p.Leu172Gln

cDNA level identifier:

c.515T>A

Genome level identifier:

g.30709T>A

Archive identifier/Other designation:

p.L172Q

Reference, alternative allele:

T, A

Genetic location (hg19):

chr1:8045059 (not available on ExAC)

Gene name:

DJ1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

26

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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