Mutation details:

Protein level identifier:

p.Glu344Serfs*91

cDNA level identifier:

c.1030delG

Genome level identifier:

g.1178865delG

Archive identifier/Other designation:

p.E344Sfs*91

Reference, alternative allele:

TC, T

Genetic location (hg19):

chr6:161969938 (not available on ExAC)

Gene name:

Parkin

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

1 compound heterozygous (1 in total).

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