Mutation details:

Protein level identifier:

p.Gln858*

cDNA level identifier:

c.2572C>T

Genome level identifier:

g.22201C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:17316223 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

40

Positive functional evidence:

not available

Number of all included cases:

6 homozygous (6 in total).