Mutation details:

Protein level identifier:

Arg1441His

cDNA level identifier:

c.4322G>A

Genome level identifier:

g.113692G>A

Archive identifier/Other designation:

R1441H

Reference, alternative allele:

G, A

Genetic location (hg19):

chr12:40704237 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

26

Positive functional evidence:

24591621; 25009464; 27423549

Diseases reported for this mutation:

PARK-LRRK2

Number of all included cases:

1 heterozygous (1 in total).

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