Mutation details:

Protein level identifier (NP_115785):

p.Asp297Metfs*22

cDNA level identifier (NM_032409):

c.889delG

Gene level identifier:

g.11148delG

Archive identifier/Other designation:

D297fsX318

Reference, alternative allele:

TG, T

Genomic location hg(19)

1:20971094 (not available on ExAC)

Gene name:

PINK1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).