Mutation details:

Protein level identifier:

Arg1441Cys

cDNA level identifier:

c.4321C>T

Genome level identifier:

g.113691C>T

Archive identifier/Other designation:

R1441C

Reference, alternative allele:

C, T

Genetic location (hg19):

chr12:40704236

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

27

Positive functional evidence:

17623048; 17706965; 18214993; 19029519; 19308469; 19527940; 19625511; 19640926; 19667187; 19781641; 20067578; 20074637; 20382224; 20642453; 21073465; 21454543; 21494637; 21538529; 21552986; 21658387; 21712955; 21806997; 22204929; 22228096; 22496842; 22952710; 23065705; 23231918; 23313773; 23895867; 24148854; 24192129; 24351927; 24375786; 24464040; 24576675; 24874075; 24916379; 25174890; 25201882; 25316291; 25355420; 25939886; 26251043; 26363496; 27794539; 28119604; 28576705; 29038245

Diseases reported for this mutation:

PARK-LRRK2

Number of all included cases:

13 heterozygous (13 in total).

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