Mutation details:

Protein level identifier (n.a.):

p.Glu344Serfs*91

cDNA level identifier (n.a.):

c.1030delG

Gene level identifier:

g.1178865delG

Archive identifier/Other designation:

p.E344Sfs*91

Reference, alternative allele:

TC, T

Genomic location hg(19)

6:161969938 (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).