Mutation details:

Protein level identifier (NP_115785):

p.Asn521Thrfs*40

cDNA level identifier (NM_032409):

c.1562_1563delAT

Gene level identifier:

g.17053_17054delAT

Reference, alternative allele:

AAT, A

Genomic location hg(0)

1:20976999 (not available on ExAC)

Gene name:

PINK1

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

25

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).