Mutation details:

Protein level identifier (NP_009193):

p.Gln45*

cDNA level identifier (NM_007262):

c.133C>T

Gene level identifier:

g.11076C>T

Archive identifier/Other designation:

p.Q45*

Reference, alternative allele:

C, T

Genomic location hg(19)

1:8025426 (not available on ExAC)

Gene name:

DJ1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).