Mutation details:

Protein level identifier (NP_115785):

p.Cys388Arg

cDNA level identifier (NM_032409):

c.1162T>C

Gene level identifier:

g.15089T>C

Archive identifier/Other designation:

p.C388R

Reference, alternative allele:

T, C

Genomic location hg(0)

1:20975036 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

30

Positive functional evidence:

22645651; 23256036; 23459931;

Number of all included cases:

5 homozygous (5 in total).

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