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 LOVD




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 -