Genomic variant #0000579877

Individual ID 00249549
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21258523C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000189
Variant remarks This variant had an allele frequency of 1.15% in a Southern African population (n=654) and was not associated with plasma lipids.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00261 View details
Owner Amanda Hooper




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 -/- 7 c.751G>A benign r.? p.(Ala251Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250656 DNA SEQ - - APOB 2 Amanda Hooper