Mutation details:

Protein level identifier (NP_071372):

p.Gly399_Leu435del

cDNA level identifier (NM_022089):

c.1306+5G>A

Gene level identifier:

g.15548G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

1:17322876 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

splice site

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

16964263; 21724849; 22296644; 23499937;

Number of all included cases:

4 compound heterozygous (4 in total).