Variant #0000003439 (NC_000012.11:g.40707778G>A, LRRK2(NM_198578.3):c.4541G>A)

Individual ID 00003439
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40707778G>A
Reference Zimprich A, 2004;Mata IF, 2005;Di Fonzo A, 2006;Nichols WC, 2007;Toft M, 2007;Haubenberger D, 2007;Paisán-Ruíz C, 2008;Nuytemans K, 2009
DB-ID LRRK2_000114 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00402 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
LRRK2 NM_198578.3 ./. 32 c.4541G>A r.(?) p.(Arg1514Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003439 ? ? LRRK2 1 Y Yang