Variant #0000001013 (NC_000002.12:g.21013213C>T, NM_000384.2:c.4163G>A (APOB))

Individual ID 00000200
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21013213C>T
Published as -
Reference Say-Hean Lye et al. (2013), dbSNP, ClinVar
DB-ID APOB_000001
dbSNP ID rs13306187
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 11:18:56 +08:00 (CST)
Date last edited 2021-08-25 09:27:13 +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 ./. 25 c.4163G>A - r.(?) p.(Arg1388His) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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