Mutation details:

Protein level identifier (NP_115785):

p.Ala244Gly

cDNA level identifier (NM_032409):

c.731C>G

Gene level identifier:

g.6493C>G

Reference, alternative allele:

C, G

Genomic location hg(0)

1:20966440 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

27

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).