Mutation details:

Protein level identifier:

p.Cys92Alafs*15

cDNA level identifier:

c.273delC

Genome level identifier:

g.367delC

Archive identifier/Other designation:

p.G91GfsX105

Reference, alternative allele:

GC, G

Genetic location (hg19):

chr1:20960313 (not available on ExAC)

Gene name:

PINK1

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

24

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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