Mutation details:

Protein level identifier (n.a.):

p.Trp74Cysfs*8

cDNA level identifier (n.a.):

c.219_220dupGT

Gene level identifier:

g.465054_465055dupGT

Archive identifier/Other designation:

321_322insGT, Trp74/Stop81

Reference, alternative allele:

C, CCA

Genomic location hg(19)

6:162683747

Gene name:

Parkin

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 homozygous (6 in total).

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