Mutation details:

Protein level identifier:

p.Trp90*

cDNA level identifier:

c.270G>A

Genome level identifier:

g.364G>A

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:20960311 (not available on ExAC)

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

1 homozygous (1 in total).

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