Mutation details:

Protein level identifier:

p.Thr414Profs*20

cDNA level identifier:

c.1240delA

Genome level identifier:

g.1367639delA

Reference, alternative allele:

GT, G

Genetic location (hg19):

chr6:161781164 (not available on ExAC)

Gene name:

Parkin

Consequence:

frameshift

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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