Mutation details:

Protein level identifier (NP_940980):

Asp2175His

cDNA level identifier (NM_198578):

c.6523G>C

Gene level identifier:

g.154937G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

12:40745484

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

6

Phosphorylation activity:

0,82 ± 0,20 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).