Mutation details:

Protein level identifier (NP_115785):

p.Gln115Thrfs*27

cDNA level identifier (NM_032409):

c.342dupA

Gene level identifier:

g.436dupA

Archive identifier/Other designation:

p.Q115Tfs*27

Reference, alternative allele:

A, AA

Genomic location hg(0)

1:20960383 (not available on ExAC)

Gene name:

PINK1

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

31

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).