Mutation details:

Protein level identifier (n.a.):

p.Lys349Serfs*20

cDNA level identifier (n.a.):

c.1046_1047delAA

Gene level identifier:

g.1178881_1178882delAA

Archive identifier/Other designation:

1147-8delAA, Lys349X368

Reference, alternative allele:

CTT, C

Genomic location hg(19)

6:161969921 (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).