Mutation details:

Protein level identifier:

p.Tyr444Metfs*39

cDNA level identifier:

c.1329delC

Genome level identifier:

g.15618delC

Archive identifier/Other designation:

p.A443AfsX481

Reference, alternative allele:

GC, G

Genetic location (hg19):

chr1:20975563 (not available on ExAC)

Gene name:

PINK1

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

34

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

4 homozygous (4 in total).

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