Mutation details:

Protein level identifier (NP_115785):

p.Glu417Gly

cDNA level identifier (NM_032409):

c.1250A>G

Gene level identifier:

g.15177A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

1:20975124 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

17707122; 19242547; 21421046; 22645651; 22910362; 23256036; 24189060;

Number of all included cases:

1 homozygous (1 in total).

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