Variant #0000002725 (NC_000006.12:g.161350176A>G, NM_004562.2:c.1321T>C (PRKN))

Individual ID 00000617
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.161350176A>G
Published as -
Reference Shen-Yang Lim et al.(2021): https://www.neurology-asia.org/articles/neuroasia-2021-26(1)-161.pdf
DB-ID PRKN_000001
dbSNP ID rs778305273
Frequency -
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
Date created 2021-05-06 10:26:43 +08:00 (CST)
Date last edited 2021-08-01 12:28:13 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PRKN NM_004562.2 +/. 12 c.1321T>C - r.(?) p.(Cys441Arg) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000684 DNA MLPA;SEQ-NG PRKN 1 Nur Aisyah Athirah