Mutation details:

Protein level identifier (NP_071372):

p.Met854Arg

cDNA level identifier (NM_022089):

c.2561T>G

Gene level identifier:

g.22190T>G

Archive identifier/Other designation:

p.Met810Arg

Reference, alternative allele:

A, C

Genomic location hg(19)

1:17316234 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).

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