Mutation details:

Protein level identifier (NP_940980):

Ile2012Thr

cDNA level identifier (NM_198578):

c.6035T>C

Gene level identifier:

g.143637T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

12:40734182

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

0,76 ± 0,36 (not activating)

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).