Genomic variant #0000603186

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248174_5248330del
DNA change (hg38) g.5226944_5227100del
Published as -29 to -26 (-AA), -79_78delAA
ISCN -
DB-ID HBB_004033
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-24
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.-79_78del - pathogenic r.(=) p.(=)