Mutation details:

Protein level identifier (NP_115785):

p.Asn367Ser

cDNA level identifier (NM_032409):

c.1100A>G

Gene level identifier:

g.12246A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

1:20972193

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).