Mutation details:

Protein level identifier (NP_071372):

p.Arg709Thr

cDNA level identifier (NM_022089):

c.2126G>C

Gene level identifier:

g.19920G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

1:17318504 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).