Mutation details:

Protein level identifier (n.a.):

p.Cys238Alafs*21

cDNA level identifier (n.a.):

c.712delT

Gene level identifier:

g.754448delT

Archive identifier/Other designation:

c.712delT

Reference, alternative allele:

CA, C

Genomic location hg(19)

6:162394355 (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).

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