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
Positive functional evidence:
not available
Number of all included cases:
3 homozygous (3 in total).