Mutation details:

Protein level identifier:

p.Gly892Asp

cDNA level identifier:

c.2675G>A

Genome level identifier:

g.23520G>A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:17314904

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

29

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).

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