Mutation details:

Protein level identifier (NP_071372):

p.Phe851Cysfs*6

cDNA level identifier (NM_022089):

c.2552_2553delTT

Gene level identifier:

g.22181_22182delTT

Archive identifier/Other designation:

c.2742_2743delTT in korr. durch 21696388

Reference, alternative allele:

CAA, C

Genomic location hg(0)

1:17316241 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).