Mutation details:

Protein level identifier:

p.Leu1059Arg

cDNA level identifier:

c.3176T>G

Genome level identifier:

g.25065T>G

Reference, alternative allele:

A, C

Genetic location (hg19):

chr1:17313359 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

26

Positive functional evidence:

21542062,; 22296644,; 24334770,; 24399444,; 27039055; 27445146,

Number of all included cases:

4 compound heterozygous (4 in total).

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