Mutation details:

cDNA level identifier (NM_032409):

c.1124-2A>T

Gene level identifier:

g.15049A>T

Reference, alternative allele:

A, T

Genomic location hg(0)

1:20974996 (not available on ExAC)

Gene name:

PINK1

Consequence:

splice site

Pathogenicity scoring:

Not available

CADD score:

34

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).