Mutation details:

Protein level identifier:

p.Ile105Phe

cDNA level identifier:

c.313A>T

Genome level identifier:

g.16664A>T

Archive identifier/Other designation:

p.I105F

Reference, alternative allele:

A, T

Genetic location (hg19):

chr1:8031014 (not available on ExAC)

Gene name:

DJ1

Consequence:

missense

Pathogenicity scoring:

probably 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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