Mutation details:

Protein level identifier (NP_115785):

p.Asn521Ilefs*2

cDNA level identifier (NM_032409):

c.1560delG

Gene level identifier:

g.17051delG

Reference, alternative allele:

AG, A

Genomic location hg(19)

1:20976997 (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:

1 compound heterozygous (1 in total).