Variant #0000002406 (NC_000002.12:g.215045850G>A, NM_173076.2:c.859C>T (ABCA12))

Individual ID 00000518
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.215045850G>A
Published as -
Reference Sanae Numata et al.(2015)
DB-ID ABCA12_000002
dbSNP ID rs11891778
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 08:45:40 +08:00 (CST)
Date last edited 2021-08-01 13:25:40 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ABCA12 NM_173076.2 +/. - c.859C>T - r.(?) p.(Arg287*) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000566 DNA PCR ABCA12 2 Nur Aisyah Athirah