Genomic variant #0000579879

Individual ID 00249493
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21257684T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000166
Variant remarks Shown in vitro to abolish splice site and lead to skipping of exon 8; normal 2nd chromosome
Reference PubMed: Di Leo 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
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.904+4A>G pathogenic r.819_904del p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250600 DNA SEQ - - APOB 1 Amanda Hooper