Mutation details:

Protein level identifier (n.a.):

p.Glu395*

cDNA level identifier (n.a.):

c.1183G>T

Gene level identifier:

g.1367582G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

6:161781222 (not available on ExAC)

Gene name:

Parkin

Consequence:

nonsense

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).

×