Variant #0000001014 (NC_000002.12:g.21029662G>A, NM_000384.2:c.1594C>T (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.21029662G>A
Published as -
Reference Say-Hean Lye et al. (2013), dbSNP
DB-ID APOB_000002
dbSNP ID rs13306194
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 11:21:13 +08:00 (CST)
Date last edited 2021-08-25 09:29:35 +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 +/. 12 c.1594C>T - r.(?) p.(Arg532Trp) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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