Mutation details:

Protein level identifier (NP_940980):

Thr2356Ile

cDNA level identifier (NM_198578):

c.7067C>T

Gene level identifier:

g.143430C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

12:40757242

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

16

Phosphorylation activity:

1,12 ± 0,48 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).