Variant #0000001916 (NC_000009.12:g.104928169G>A, NM_005502.3:c.-327C>T (ABCA1))

Individual ID 00000410
Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.104928169G>A
Published as -
Reference Polin Haghvirdizadeh et al.(2015)dbSNP
DB-ID ABCA1_000002 See all 3 reported entries
dbSNP ID rs1800977
Frequency -
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 2021-02-15 14:34:26 +08:00 (CST)
Date last edited 2021-09-05 11:49:15 +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.-327C>T - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000426 Protein ? ABCA1 3 Nur Aisyah Athirah