Genomic variant #0000579880

Individual ID 00249551
Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.21257660C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000005
Variant remarks -
Reference -
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 Sigrid Fouchier




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 -?/? 8i c.904+28G>A likely benign r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250658 DNA SEQ - - APOB 1 Sigrid Fouchier