Mutation details:

Protein level identifier (NP_115785):

p.Gln533Profs*29

cDNA level identifier (NM_032409):

c.1597dupC

Gene level identifier:

g.17088dupC

Reference, alternative allele:

C, CC

Genomic location hg(0)

1:20977035 (not available on ExAC)

Gene name:

PINK1

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

33

Positive functional evidence:

not available

Number of all included cases:

8 homozygous (8 in total).