Variant #0000002408 (NC_000002.12:g.214991032C>T, NC_000002.12(NM_173076.2):c.3295-1G>A (ABCA12))

Individual ID 00000519
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.214991032C>T
Published as -
Reference Sanae Numata et al.(2015)
DB-ID ABCA12_000004
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 08:52:35 +08:00 (CST)
Date last edited 2021-08-01 13:25:57 +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.3295-1G>A - r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000567 DNA PCR ABCA12 1 Nur Aisyah Athirah