Mutation details:

Protein level identifier (NP_071372):

p.Gln858*

cDNA level identifier (NM_022089):

c.2572C>T

Gene level identifier:

g.22201C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

1:17316223 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

43

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).