Genomic variant #0000603280

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248030_5248046del
DNA change (hg38) g.5226800_5226816del
Published as IVS I [3' end] (-17 bp) (17 bp deletion), 93-17_93-1delTATTTTCCCACCCTTAG
ISCN -
DB-ID HBB_001153 See all 2 reported entries
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-121
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner IthaNet - Petros Kountouris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.93-17_93-1del - pathogenic r.spl? p.?