Variant #0000001078 (NC_000002.12:g.21007324G>T, NM_000384.2:c.9544C>A (APOB))

Individual ID 00000214
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21007324G>T
Published as -
Reference Livy Alex et al. (2012), dbSNP, ClinVar
DB-ID APOB_000020
dbSNP ID rs12720848
Frequency 1/17
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 2020-12-03 09:43:03 +08:00 (CST)
Date last edited 2021-08-23 11:22:55 +08:00 (CST)
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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 ?/. 26 c.9544C>A - r.(?) p.(His3182Asn) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000229 DNA SEQ-NG-I APOB 17 Nuur Athirah Binti Mohd Daud