Variant #0000603517 (NC_000011.9:g.5248180_5248182del, HBB(NM_000518.4):c.71_73del)

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.5248180_5248182del
DNA change (hg38) g.5226950_5226952del
Published as CD 23 (-GTT), 70_72delGTT
ISCN -
DB-ID HBB_001059 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-878
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.71_73del Hb Freiburg r.(?) p.(Val24del)