Mutation details:

Protein level identifier:

p.Thr415Asn

cDNA level identifier:

c.1244C>A

Genome level identifier:

g.1367643C>A

Archive identifier/Other designation:

1345C>A

Reference, alternative allele:

G, T

Genetic location (hg19):

chr6:161781161

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:

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

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