Mutation details:

Protein level identifier (NP_071372):

p.Phe182Leu

cDNA level identifier (NM_022089):

c.546C>A

Gene level identifier:

g.7586C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

1:17330838 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

22768177; 22847264; 23499937;

Number of all included cases:

1 homozygous (1 in total).