Mutation details:

Protein level identifier:

p.Arg42Pro

cDNA level identifier:

c.125G>C

Genome level identifier:

g.284416G>C

Reference, alternative allele:

C, G

Genetic location (hg19):

chr6:162864388

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

11 homozygous, 5 compound heterozygous (16 in total).

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