Mutation details:

Protein level identifier (NP_115785):

p.Asp525Valfs*38

cDNA level identifier (NM_032409):

c.1570_1573dupTTAG

Gene level identifier:

g.17061_17064dupTTAG

Archive identifier/Other designation:

1573_1574insTTAG

Reference, alternative allele:

TTAG, TTAGTTAG

Genomic location hg(19)

1:20977008 (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:

1 homozygous (1 in total).