Mutation details:

Protein level identifier:

p.Arg275Trp

cDNA level identifier:

c.823C>T

Genome level identifier:

g.941952C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr6:162206852

Gene name:

Parkin

Consequence:

missense

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:

8 homozygous, 70 compound heterozygous (78 in total).

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