Variant #0000001022 (NC_000002.12:g.21009249C>A, NM_000384.2:c.7619G>T (APOB))

Individual ID 00000201
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21009249C>A
Published as Gly2540Val
Reference dbSNP, ClinVar
DB-ID APOB_000010
dbSNP ID rs571626569
Frequency 1/9
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 2020-11-30 12:32:02 +08:00 (CST)
Date last edited 2021-08-25 09:38:19 +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     
APOB NM_000384.2 ./. 26 c.7619G>T - r.(?) p.(Gly2540Val) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000216 DNA DHPLC;SEQ APOB 9 Nuur Athirah Binti Mohd Daud