Mutation details:

cDNA level identifier (NM_007262):

c.91-2A>G

Gene level identifier:

g.11032A>G

Archive identifier/Other designation:

IVS2-2A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

1:8025382 (not available on ExAC)

Gene name:

DJ1

Consequence:

splice site 1 3bp

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).