Genomic variant #0000579868

Individual ID 00249450
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21265322G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000012
Variant remarks reads containing variant: 63/118, 38/90, 41/93, 40/86; normal 2nd chromosome
Reference PubMed: Thomas 2013
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 Ellen Thomas




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 +/+ 3 c.148C>T pathogenic r.(?) p.(Arg50Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250557 DNA SEQ - - APOB 1 Ellen Thomas