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

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
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