Variant #0000001510 (NC_000009.12:g.104858554G>A, NM_005502.3:c.688C>T (ABCA1))

Individual ID 00000316
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.104858554G>A
Published as R230C
Reference Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar
DB-ID ABCA1_000003 See all 3 reported entries
dbSNP ID rs9282541
Frequency 32/164
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-01-04 15:18:41 +08:00 (CST)
Date last edited 2021-09-01 11:17:47 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ABCA1 NM_005502.3 +/. - c.688C>T - r.(?) p.(Arg230Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000331 DNA PCR ABCA1 6 Nuur Athirah Binti Mohd Daud