Mutation details:

Protein level identifier:

p.Leu825Asnfs*33

cDNA level identifier:

c.2473delinsAA

Genome level identifier:

g.21986delinsAA

Reference, alternative allele:

G, TT

Genetic location (hg19):

chr1:17316438 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

10 homozygous (10 in total).

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