Mutation details:

cDNA level identifier (NM_032409):

c.1123+1247_*881del

Gene level identifier:

g.13516_18118del

Archive identifier/Other designation:

deletion of exons 6-8

Reference, alternative allele:

T+4603bp, T

Genomic location hg(19)

1:20973462 (not available on ExAC)

Gene name:

PINK1

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).

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