Variant #0000604068 (NC_000011.9:g.5247995del, HBB(NM_000518.4):c.129del)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247995del
DNA change (hg38) g.5226765del
Published as CD 42 TTT>TT-, 129delT
ISCN -
DB-ID HBB_001907 See all 2 reported entries
Variant remarks β-thalassaemia, β-chain variant
Reference IthaNet-2954
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
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.129del Hb Yala r.(?) p.(Phe43Leufs*19)