Variant #0000002726 (NC_000012.12:g.40310434C>T, LRRK2(NM_198578.3):c.4321C>T)

Individual ID 00000618
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.40310434C>T
Published as -
Reference Shen-Yang Lim et al.(2020)
DB-ID LRRK2_000001 See all 2 reported entries
dbSNP ID rs33939927
Frequency 1/499
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
LRRK2 NM_198578.3 +/. - c.4321C>T R1441C r.(?) p.(Arg1441Cys) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000685 DNA SEQ-NG LRRK2 1 Nur Aisyah Athirah