Mutation details:

Protein level identifier (NP_115785):

p.Gly309Asp

cDNA level identifier (NM_032409):

c.926G>A

Gene level identifier:

g.11185G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

1:20971132 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

28

Positive functional evidence:

15087508; 17579517; 17707122; 17989306; 18003639; 18218782; 18511044; 20045449; 20049710; 20153330; 20179104; 20842103; 21366594; 21421046; 22212487; 22645651; 22910362; 23256036; 23303188; 23459931; 24374372; 24652937; 25305081;

Number of all included cases:

3 homozygous (3 in total).

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