Mutation details:

Protein level identifier (NP_115785):

p.Arg152Trp

cDNA level identifier (NM_032409):

c.454C>T

Gene level identifier:

g.4454C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

1:20964401 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

30

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).