Mutation details:

Protein level identifier (n.a.):

p.Thr154Lys

cDNA level identifier (n.a.):

c.461C>A

Gene level identifier:

g.30655C>A

Archive identifier/Other designation:

p.T154L

Reference, alternative allele:

C, A

Genomic location hg(19)

1:8045005 (not available on ExAC)

Gene name:

PARK7

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

31353306;

Number of all included cases:

1 homozygous (1 in total).