Variant #0000001023 (NC_000002.12:g.21008720G>A, NM_000384.2:c.8148C>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.21008720G>A
Published as Ile2716Ile
Reference dbSNP, ClinVar
DB-ID APOB_000011 See all 2 reported entries
dbSNP ID rs6413458
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 12:39:03 +08:00 (CST)
Date last edited 2021-08-25 09:37:37 +08:00 (CST)
Options




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.8148C>T - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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