Mutation details:

Protein level identifier (NP_071372):

p. Val73Glyfs*26

cDNA level identifier (NM_022089):

c.217dupG

Gene level identifier:

g.6484dupG

Reference, alternative allele:

A, AC

Genomic location hg(0)

1:17331939 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).