Mutation details:

Protein level identifier (NP_071372):

p.Gly399_Leu435del

cDNA level identifier (NM_022089):

c.1306+5G>A

Gene level identifier:

g.15548G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

1:17322876 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

13

Positive functional evidence:

23499937;

Number of all included cases:

4 compound heterozygous (4 in total).

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