Variant #0000603443 (NC_000011.9:g.?, HBB(NM_000518.4):c.?)

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.?
DNA change (hg38) -
Published as Turk (~7.6 kb deletion)
ISCN -
DB-ID DRD4_000002 See all 78 reported entries
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-292
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner IthaNet - Petros Kountouris




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.? - r.? p.?