Mutation details:

Protein level identifier (NP_115785):

p.Cys549Trpfs*5

cDNA level identifier (NM_032409):

c.1647_1650delTGTG

Gene level identifier:

g.17138_17141delTGTG

Reference, alternative allele:

TTGTG, T

Genomic location hg(19)

1:20977082 (not available on ExAC)

Gene name:

PINK1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 compound heterozygous (3 in total).