Mutation details:

Protein level identifier:

p.Cys253Tyr

cDNA level identifier:

c.758G>A

Genome level identifier:

g.941887G>A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr6:162206917

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:

1 homozygous, 8 compound heterozygous (9 in total).

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