Mutation details:

Protein level identifier (n.a.):

p.Ala38Valfs*6

cDNA level identifier (n.a.):

c.113_115delinsTT

Gene level identifier:

g.284404_284406delinsTT

Reference, alternative allele:

TCAG, TAA

Genomic location hg(19)

6:162864397 (not available on ExAC)

Gene name:

Parkin

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).