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(0)

1:20972199 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

26

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).