Mutation details:

Protein level identifier:

p.Phe851Cysfs*6

cDNA level identifier:

c.2552_2553delTT

Genome level identifier:

g.22181_22182delTT

Archive identifier/Other designation:

c.2742_2743delTT in korr. durch 21696388

Reference, alternative allele:

CAA, C

Genetic location (hg19):

chr1:17316241 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

35

Positive functional evidence:

28334751

Number of all included cases:

2 homozygous (2 in total).

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