Mutation details:

cDNA level identifier (n.a.):

c.322+4A>C

Gene level identifier:

g.16677A>C

Archive identifier/Other designation:

IVS5+4A>C

Reference, alternative allele:

A, C

Genomic location hg(19)

1:8031027 (not available on ExAC)

Gene name:

PARK7

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

2

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).