Mutation details:

Protein level identifier (NP_009193):

p.Thr19Lysfs*5

cDNA level identifier (NM_007262):

c.56_57delinsA

Gene level identifier:

g.8551_8552delinsA

Reference, alternative allele:

ACG, AA

Genomic location hg(19)

1:8022900 (not available on ExAC)

Gene name:

DJ1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).