Mutation details:

Protein level identifier:

Arg1441Ser

cDNA level identifier:

c.4321C>A

Genome level identifier:

g.113691C>A

Reference, alternative allele:

C, A

Genetic location (hg19):

chr12:40704236 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

26

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-LRRK2

Number of all included cases:

6 heterozygous (6 in total).

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