Variant #0000001018 (NC_000002.12:g.21026968A>T, NC_000002.12(NM_000384.2):c.2068-4T>A (APOB))

Individual ID 00000200
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21026968A>T
Published as -
Reference Say-Hean Lye et al. (2013), dbSNP
DB-ID APOB_000006
dbSNP ID rs41291161
Frequency 1/8
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 11:30:53 +08:00 (CST)
Date last edited 2021-08-25 09:29:10 +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 +/. 14i c.2068-4T>A - r.spl? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000215 DNA SEQ-NG-I;SEQ APOB 8 Nuur Athirah Binti Mohd Daud