Mutation details:

Protein level identifier (NP_071372):

p.Trp258*

cDNA level identifier (NM_022089):

c.774G>A

Gene level identifier:

g.11463G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

1:17326961 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).