Mutation details:

Protein level identifier:

p.Gly399_Leu435del

cDNA level identifier:

c.1306+5G>A

Genome level identifier:

g.15548G>A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:17322876 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

splice site

Pathogenicity scoring:

probably pathogenic

CADD score:

13

Positive functional evidence:

16964263,; 22296644,; 23499937

Number of all included cases:

8 compound heterozygous (8 in total).

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