Genomic variant #0000579884

Individual ID 00249555
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21256280_21256281del
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000088
Variant remarks -
Reference PubMed: Tarugi 2007
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 Amanda Hooper




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 +/+? 9 c.1014_1015del pathogenic r.(?) p.(Glu339Alafs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250662 DNA SEQ - - APOB 1 Amanda Hooper