Mutation details:

Protein level identifier (NP_071372):

p.Gly504Arg

cDNA level identifier (NM_022089):

c.1510G>C

Gene level identifier:

g.15921G>C

Archive identifier/Other designation:

Gly504Arg

Reference, alternative allele:

C, G

Genomic location hg(19)

1:17322503 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Positive functional evidence:

22847264;

Number of all included cases:

1 homozygous (1 in total).

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