Mutation details:

Protein level identifier (NP_115785):

p.Asn223Lysfs*12

cDNA level identifier (NM_032409):

c.669delC

Gene level identifier:

g.4669delC

Reference, alternative allele:

AC, A

Genomic location hg(0)

1:20964615 (not available on ExAC)

Gene name:

PINK1

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

31

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).