Mutation details:

cDNA level identifier (n.a.):

c.252+8dupA

Gene level identifier:

g.15122dupA

Archive identifier/Other designation:

IVS4+3insA

Reference, alternative allele:

A, AA

Genomic location hg(19)

1:8029467

Gene name:

PARK7

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Possibly pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

18722801;

Number of all included cases:

1 compound heterozygous (1 in total).

×