Mutation details:

Protein level identifier:

p.Leu539Phe

cDNA level identifier:

c.1617G>C

Genome level identifier:

g.17108G>C

Archive identifier/Other designation:

p.L539F

Reference, alternative allele:

G, C

Genetic location (hg19):

chr1:20977055 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

25

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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