Mutation details:

Protein level identifier:

p.Gln267*

cDNA level identifier:

c.799C>T

Genome level identifier:

g.11058C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:20971005 (not available on ExAC)

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

38

Positive functional evidence:

26282903

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

1 homozygous (1 in total).

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