Mutation details:

Protein level identifier (NP_071372):

p.Gly504Arg

cDNA level identifier (NM_022089):

c.1510G>C

Gene level identifier:

g.15921G>C

Archive identifier/Other designation:

Gly504Arg

Reference, alternative allele:

C, G

Genomic location hg(0)

1:17322503 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

22768177; 22847264; 23499937;

Number of all included cases:

1 homozygous (1 in total).