Mutation details:

Protein level identifier (NP_071372):

p.Tyr1020Thrfs*3

cDNA level identifier (NM_022089):

c.3057delC

Gene level identifier:

g.24857delC

Reference, alternative allele:

AG, A

Genomic location hg(19)

1:17313566

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

6 compound heterozygous (6 in total).

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