Mutation details:

Protein level identifier (n.a.):

p.Pro37Leu

cDNA level identifier (n.a.):

c.110C>T

Gene level identifier:

g.284401C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

6:162864403

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).