Mutation details:

Protein level identifier (NP_071372):

p.Leu825Asnfs*33

cDNA level identifier (NM_022089):

c.2473delinsAA

Gene level identifier:

g.21986delinsAA

Reference, alternative allele:

G, TT

Genomic location hg(0)

1:17316438 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 homozygous (5 in total).