Mutation details:

Protein level identifier (NP_115785):

p.Leu369Pro

cDNA level identifier (NM_032409):

c.1106T>C

Gene level identifier:

g.12252T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:20972199 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

22645651;

Number of all included cases:

2 compound heterozygous (2 in total).

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