Variant #0000003427 (NC_000012.11:g.40693057T>C, LRRK2(NM_198578.3):c.3494T>C)

Individual ID 00003427
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40693057T>C
Reference Chen-Plotkin AS, 2008;Covy JP, 2009
DB-ID LRRK2_000102
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
LRRK2 NM_198578.3 ./. 25 c.3494T>C r.(?) p.(Leu1165Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003427 ? ? LRRK2 1 Y Yang