Genomic variant #0000437638

Individual ID 00206892
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21260051del
DNA change (hg38) -
Published as 614delC
ISCN -
DB-ID APOB_000493
Variant remarks -
Reference PubMed: Di Filippo 2014, Journal: Di Filippo 2014
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 Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 +/. - c.614del pathogenic (recessive) r.(?) p.(Thr205Metfs*27)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207926 DNA SEQ - - APOB 1 Johan den Dunnen