Mutation details:

Protein level identifier:

p.Thr313Met

cDNA level identifier:

c.938C>T

Genome level identifier:

g.11197C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:20971144

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

34

Positive functional evidence:

23459931

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

7 homozygous (7 in total).

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