Mutation details:

cDNA level identifier (NM_007262):

c.90+1dupG

Gene level identifier:

g.8585dupG

Archive identifier/Other designation:

c.90dupG; p.Ile31Aspfs*2

Reference, alternative allele:

G, GG

Genomic location hg(19)

1:8022936 (not available on ExAC)

Gene name:

DJ1

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).