Mutation details:

Protein level identifier (NP_071372):

p.Leu1085Trpfs*4

cDNA level identifier (NM_022089):

c.3253delC

Gene level identifier:

g.25314delC

Reference, alternative allele:

AG, A

Genomic location hg(0)

1:17313109 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

21542062; 22296644; 24334770; 24399444; 27039055; 27445146;

Number of all included cases:

2 compound heterozygous (2 in total).