Mutation details:

Protein level identifier:

p.Gln34Argfs*5

cDNA level identifier:

c.101_102delAG

Genome level identifier:

g.284392_284393delAG

Archive identifier/Other designation:

202_203delAG; Gln34/Stop37

Reference, alternative allele:

CCT, C

Genetic location (hg19):

chr6:162864410

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:

13 homozygous, 24 compound heterozygous (37 in total).

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