Mutation details:

Protein level identifier:

Ile2020Thr

cDNA level identifier:

c.6059T>C

Genome level identifier:

g.143661T>C

Archive identifier/Other designation:

I2020T

Reference, alternative allele:

T, C

Genetic location (hg19):

chr12:40734206

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

28

Positive functional evidence:

17447891; 19302196; 19397894; 19912990; 20067578; 20642453; 21454543; 21658387; 22004453; 22303461; 22534020; 23220480; 23241745; 23924436; 24375786; 24695735; 25939886; 26056228; 27314038; 27832104; 28158614

Diseases reported for this mutation:

PARK-LRRK2

Number of all included cases:

1 heterozygous (1 in total).

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