Genomic variant #0000579881

Individual ID 00249552
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21256390_21256391dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000163
Variant remarks apoB-7
Reference PubMed: Gangloff 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Amanda Hooper




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 +/+? 8i c.905-1_905dupGG pathogenic r.spl? p.(T303Vfs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250659 DNA SEQ - - APOB 1 Amanda Hooper