Mutation details:

Protein level identifier:

Ile2012Thr

cDNA level identifier:

c.6035T>C

Genome level identifier:

g.143637T>C

Reference, alternative allele:

T, C

Genetic location (hg19):

chr12:40734182

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

25

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-LRRK2

Number of all included cases:

5 heterozygous (5 in total).

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