Mutation details:

Protein level identifier (NP_940980):

Gln923His

cDNA level identifier (NM_198578):

c.2769G>C

Gene level identifier:

g.96881G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

12:40687426

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

13

Phosphorylation activity:

1,44 ± 0,60 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).