Genomic variant #0000060715

Individual ID 00033801
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.21233102_21233104del
DNA change (hg38) g.21010230_21010232del
Published as c.6636_6638del
ISCN -
DB-ID APOB_000802 See all 9 reported entries
Variant remarks -
Reference PubMed: Braenne 2016, Journal: Braenne 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Benedikt Reiz
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APOB NM_000384.2 ?/. 26 c.6639_6641del r.(?) p.(Asp2213del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033869 DNA SEQ-NG - - - 1 Benedikt Reiz