Mutation details:

Protein level identifier (n.a.):

p.Asp24Metfs*3

cDNA level identifier (n.a.):

c.137delG

Gene level identifier:

g.8565delG

Reference, alternative allele:

AG, A

Genomic location hg(19)

1:8022914 (not available on ExAC)

Gene name:

PARK7

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).