Mutation details:

cDNA level identifier:

c.1286-3C>G

Genome level identifier:

g.1377558C>G

Reference, alternative allele:

G, C

Genetic location (hg19):

chr6:161771246

Gene name:

Parkin

Consequence:

splice site

Pathogenicity scoring:

possibly pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

3 homozygous, 5 compound heterozygous (8 in total).

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