Mutation details:

cDNA level identifier (n.a.):

c.1084-3859_1167+1618del

Gene level identifier:

g.1337036_1342596del

Archive identifier/Other designation:

deletion of exon 10

Reference, alternative allele:

A+5561, A

Genomic location hg(19)

6:161806207 (not available on ExAC)

Gene name:

Parkin

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).

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