Mutation details:

Protein level identifier (NP_115785):

p.Ile368Asn

cDNA level identifier (NM_032409):

c.1103T>A

Gene level identifier:

g.12249T>A

Reference, alternative allele:

T, A

Genomic location hg(19)

1:20972196

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).