Mutation details:

Protein level identifier (NP_071372):

p.Thr368Argfs*29

cDNA level identifier (NM_022089):

c.1101_1102dupGA

Gene level identifier:

g.14816_14817insGA

Reference, alternative allele:

G, GTC

Genomic location hg(0)

1:17323607 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).