Mutation details:

Protein level identifier (NP_071372):

p.Tyr1020Thrfs*3

cDNA level identifier (NM_022089):

c.3057delC

Gene level identifier:

g.24857delC

Reference, alternative allele:

AG, A

Genomic location hg(0)

1:17313566 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

16964263; 21665991; 21724849; 22296644;

Number of all included cases:

6 compound heterozygous (6 in total).