Variant #0000002413 (NC_000017.11:g.8079527delA, NM_001139.2:c.940delT (ALOX12B))

Individual ID 00000522
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.8079527delA
Published as -
Reference Sanae Numata et al.(2015)
DB-ID ALOX12B_000001
dbSNP ID -
Frequency 1/17
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 2021-03-16 10:40:23 +08:00 (CST)
Date last edited 2021-08-01 13:26:35 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ALOX12B NM_001139.2 +/. - c.940delT - r.(?) p.(Tyr314Thrfs*38) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000570 DNA PCR ALOX12B 1 Nur Aisyah Athirah