Mutation details:

cDNA level identifier (NM_032409):

c.1252-2_1272del

Gene level identifier:

g.15539_15561del23

Archive identifier/Other designation:

23bp deletion

Reference, alternative allele:

CAGGTGTCCACGGCCCGTCCTGGC, C

Genomic location

1:20975485 (not available on ExAC)

Gene name:

PINK1

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

17154281;

Number of all included cases:

1 compound heterozygous (1 in total).

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