Mutation details:

Protein level identifier (NP_115785):

p.Arg464His

cDNA level identifier (NM_032409):

c.1391G>A

Gene level identifier:

g.15680G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

1:20975627

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).

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