Mutation details:

Protein level identifier (NP_115785):

p.Arg492*

cDNA level identifier (NM_032409):

c.1474C>T

Gene level identifier:

g.15763C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

1:20975710

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

51

Phosphorylation activity:

Positive functional evidence:

20547144;

Number of all included cases:

3 homozygous, 5 compound heterozygous (8 in total).

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