Genomic variant #0000579867

Individual ID 00249546
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21266735C>G
DNA change (hg38) -
Published as 210+1G_C
ISCN -
DB-ID APOB_000167
Variant remarks -
Reference PubMed: Welty 2001
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 Amanda Hooper




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOB NM_000384.2 +/+? 1i c.82+1G>C pathogenic r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250653 DNA SEQ - - APOB 2 Amanda Hooper