Mutation details:

Protein level identifier (n.a.):

p.Cys253Phe

cDNA level identifier (n.a.):

c.758G>T

Gene level identifier:

g.941887G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

6:162206917 (not available on ExAC)

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).

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