Mutation details:

Protein level identifier (NP_115785):

p.Lys520Argfs*3

cDNA level identifier (NM_032409):

c.1557delG

Gene level identifier:

g.17048delG

Archive identifier/Other designation:

p.L519fsX522

Reference, alternative allele:

TG, T

Genomic location hg(19)

1:20976994

Gene name:

PINK1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).