Genomic variant #0000579869

Individual ID 00249542
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21265307_21265312del
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000190
Variant remarks In vitro studies showed that secretion of the mutant apoB is defective, due to its increased cellular degradation.; normal 2nd chromosome
Reference PubMed: Magnolo 2016
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 +/+ 3 c.158_163del pathogenic r.? p.Thr53_Tyr54del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250649 DNA SEQ - - APOB 1 -