Genomic variant #0000604070

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247964del
DNA change (hg38) g.5226734del
Published as CD 52 GAT>G-T, 158delA
ISCN -
DB-ID HBB_001882 See all 2 reported entries
Variant remarks β-thalassaemia
Reference IthaNet-2959
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.158del - pathogenic r.(?) p.(Asp53Valfs*9)