Mutation details:

Protein level identifier:

p.Gln456*

cDNA level identifier:

c.1366C>T

Genome level identifier:

g.15655C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:20975602

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

definitely pathogenic

CADD score:

40

Positive functional evidence:

20508036; 21508222; 22043288; 25226871

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

11 homozygous, 1 compound heterozygous (12 in total).

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