Mutation details:

Protein level identifier (NP_115785):

p.Gly409Val

cDNA level identifier (NM_032409):

c.1226G>T

Gene level identifier:

g.15153G>T

Reference, alternative allele:

G, T

Genomic location hg(19)

1:20975100 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

17000703; 20153330; 22645651; 22910362; 23459931; 24189060;

Number of all included cases:

1 homozygous (1 in total).

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