Mutation details:

Protein level identifier (NP_115785):

p.Tyr444Metfs*39

cDNA level identifier (NM_032409):

c.1329delC

Gene level identifier:

g.15618delC

Archive identifier/Other designation:

p.A443AfsX481

Reference, alternative allele:

GC, G

Genomic location hg(19)

1:20975563 (not available on ExAC)

Gene name:

PINK1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).