Genomic variant #0000604155

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247902_5247903delinsAT
DNA change (hg38) g.5226672_5226673delinsAT
Published as CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr], [219T>A;220G>T]
ISCN -
DB-ID HBB_004176 See all 2 reported entries
Variant remarks β-thalassaemia
Reference IthaNet-3374
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.219_220delinsAT Hb South China VUS r.(?) p.(Ser73_Asp74delinsArgTyr)