Variant #0000002657 (NC_000002.12:g.21002532C>T, APOB(NM_000384.2):c.12890G>A)

Individual ID 00000595
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21002532C>T
Published as -
Reference Alyaa R Al-Khateeb et al.(2013)
DB-ID APOB_000015 See all 2 reported entries
dbSNP ID rs375701380
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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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 +/. 29 c.12890G>A - r.(?) p.(Arg4297His) - Uncertain significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000661 DNA DHPLC APOB 10 Nur Aisyah Athirah