Mutation details:

Protein level identifier:

p.Arg246*

cDNA level identifier:

c.736C>T

Genome level identifier:

g.6498C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:20966445

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

41

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

10 homozygous (10 in total).

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