Mutation details:

Protein level identifier:

p.Cys332*

cDNA level identifier:

c.996C>A

Genome level identifier:

g.1178831C>A

Reference, alternative allele:

G, T

Genetic location (hg19):

chr6:161969973 (not available on ExAC)

Gene name:

Parkin

Consequence:

nonsense

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 (2 in total).

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