Mutation details:

Protein level identifier (NP_115785):

p.Gln534_Ser535insGln

cDNA level identifier (NM_032409):

c.1602_1603insCAA

Gene level identifier:

g.17093_17094insCAA

Reference, alternative allele:

A, ACAA

Genomic location hg(19)

1:20977040 (not available on ExAC)

Gene name:

PINK1

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).