Variant #0000603447 (NC_000011.9:g.5238170_5250781del, HBB(NM_000518.4):c.-2524_*8664del)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5238170_5250781del
DNA change (hg38) g.5216940_5229551del
Published as Dutch (12620 bp deletion), NG_000007.3:g.68071_80682del12612
ISCN -
DB-ID HBB_004016
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-296
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner IthaNet - Petros Kountouris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.-2524_*8664del Dutch deletion r.0 p.0