Mutation details:

Protein level identifier:

p.Asn52Metfs*29

cDNA level identifier:

c.155delA

Genome level identifier:

g.284446delA

Archive identifier/Other designation:

p.Arg50fs(+28aa), p.Asn52/X80, p.Asn52/Stop81, 255delA

Reference, alternative allele:

AT, A

Genetic location (hg19):

chr6:162864357

Gene name:

Parkin

Consequence:

frameshift

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:

53 homozygous, 33 compound heterozygous (86 in total).

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