Genomic variant #0000603261

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248159C>T
DNA change (hg38) g.5226929C>T
Published as IVS I-1 G>A
ISCN -
DB-ID HBB_001137 See all 85 reported entries
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-101
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
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.92+1G>A - pathogenic r.spl p.?