Mutation details:

Protein level identifier (NP_115785):

p.Cys92Alafs*15

cDNA level identifier (NM_032409):

c.273delC

Gene level identifier:

g.367delC

Archive identifier/Other designation:

p.G91GfsX105

Reference, alternative allele:

GC, G

Genomic location hg(19)

1:20960313 (not available on ExAC)

Gene name:

PINK1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).