Mutation details:

Protein level identifier (n.a.):

p.Arg33*

cDNA level identifier (n.a.):

c.97C>T

Gene level identifier:

g.284388C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

6:162864416

Gene name:

Parkin

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).

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