Mutation details:

Protein level identifier:

p.Gly284Arg

cDNA level identifier:

c.850G>C

Genome level identifier:

g.941979G>C

Archive identifier/Other designation:

p.G284R

Reference, alternative allele:

C, G

Genetic location (hg19):

chr6:162206825

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

2 homozygous, 7 compound heterozygous (9 in total).

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