Mutation details:

Protein level identifier:

Tyr1699Cys

cDNA level identifier:

c.5096A>G

Genome level identifier:

g.124371A>G

Archive identifier/Other designation:

Y1699C

Reference, alternative allele:

A, G

Genetic location (hg19):

chr12:40714916 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

28

Positive functional evidence:

17447891; 18675914; 19625296; 21073465; 21073465; 21390248; 21454543; 22004453; 23924436; 25316291; 25939886; 26251043

Diseases reported for this mutation:

PARK-LRRK2

Number of all included cases:

1 heterozygous (1 in total).

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