Mutation details:

Protein level identifier:

p.Leu358Argfs*77

cDNA level identifier:

c.1072_1073delCTinsA

Genome level identifier:

g.1178907_1178908delCTinsA

Archive identifier/Other designation:

p.L358Rfs*77

Reference, alternative allele:

CAG, CT

Genetic location (hg19):

chr6:161969895 (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:

1 homozygous (1 in total).

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