Mutation details:

Protein level identifier (NP_071372):

p.Leu789Argfs*15

cDNA level identifier (NM_022089):

c.2366_2367delTC

Gene level identifier:

g.21756_21757delTC

Reference, alternative allele:

CGA, C

Genomic location hg(0)

1:17316666 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).