Mutation details:

Protein level identifier (NP_115785):

p.Arg483Serfs*7

cDNA level identifier (NM_032409):

c.1448_1449insTCAGTGCCTCCAGACTTGAG

Gene level identifier:

g.15737_15738insTCAGTGCCTCCAGACTTGAG

Reference, alternative allele:

G, GTCAGTGCCTCCAGACTTGAG

Genomic location hg(0)

1:20975684 (not available on ExAC)

Gene name:

PINK1

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

32

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).