Mutation details:

Protein level identifier:

p.Ile368Asn

cDNA level identifier:

c.1103T>A

Genome level identifier:

g.12249T>A

Reference, alternative allele:

T, A

Genetic location (hg19):

chr1:20972196

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

30

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

1 homozygous (1 in total).

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