Mutation details:

Protein level identifier (n.a.):

p.Thr19Lysfs*5

cDNA level identifier (n.a.):

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:

PARK7

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

13

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).