Protein level identifier (NP_115785):

deletions of PINK1 exons 4-8 + 88bp insertion in DDOST intron 2

cDNA level identifier (NM_032409):

c.777-1614_*853delins88

Gene level identifier:

g.9422_18090delins88

Archive identifier/Other designation:

deletions of exons 4-8

Genomic location hg(19)

1:20969368 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).