Genomic variant #0000437640

Individual ID 00206894
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21263904A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID APOB_000495
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.289T>G likely pathogenic (recessive) r.(?) p.(Cys97Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207928 DNA SEQ - - APOB 2 Johan den Dunnen