Mutation details:

Protein level identifier (NP_009193):

p.Pro158del

cDNA level identifier (NM_007262):

c.471_473delGCC

Gene level identifier:

g.30665_30667delGCC

Reference, alternative allele:

GGCC, G

Genomic location hg(19)

1:8045014

Gene name:

DJ1

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

20806408; 23241025; 24912681; 25058424;

Number of all included cases:

1 homozygous (1 in total).