Variant #0000002249 (NC_000012.12:g.40263898C>G, LRRK2(NM_198578.3):c.1653C>G)

Individual ID 00000478
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.40263898C>G
Published as N551K
Reference Aroma Agape Gopalai et al.(2019)
DB-ID LRRK2_000002 See all 3 reported entries
dbSNP ID rs7308720
Frequency 5/76
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
- - +/. - c.1653C>G - r.(?) p.(Asn551Lys) -
- - +/. - c.1653C>G - r.(?) p.(Asn551Lys) -
- - +/. - c.1653C>G - r.(?) p.(Asn551Lys) -
- - ?/. - c.450C>G - r.(?) p.(Asn150Lys) -
- - ?/. - n.1895C>G - r.(?) - -
- - +/. - c.1653C>G - r.(?) p.(Asn551Lys) -
- - +/. - c.1653C>G - r.(?) p.(Asn551Lys) -
- - +/. - c.1653C>G - r.(?) p.(Asn551Lys) -
LRRK2 NM_198578.3 +/. - c.1653C>G - r.(?) p.(Asn551Lys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000524 DNA TaqMan LRRK2 2 Nur Aisyah Athirah