Mutation details:

Protein level identifier (n.a.):

p.Asp243Asn

cDNA level identifier (n.a.):

c.727G>A

Gene level identifier:

g.754463G>A

Archive identifier/Other designation:

G828A

Reference, alternative allele:

C, T

Genomic location hg(19)

6:162394341

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:

1 compound heterozygous (1 in total).