Mutation details:

Protein level identifier (NP_940980):

Asn1437His

cDNA level identifier (NM_198578):

c.4309A>C

Gene level identifier:

g.112482A>C

Archive identifier/Other designation:

N1437H

Reference, alternative allele:

A, C

Genomic location hg(19)

12:40703027 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

27

Phosphorylation activity:

5,93 ± 2,34 (strongly activating)

Positive functional evidence:

22154298; 23241745; 29519959;

Number of all included cases:

14 heterozygous (14 in total).