Mutation details:

Protein level identifier (NP_071372):

p.Ser941Thrfs*2

cDNA level identifier (NM_022089):

c.2822delG

Gene level identifier:

g.23754delG

Reference, alternative allele:

GC, G

Genomic location hg(0)

1:17314669 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).