Variant #0000603260 (NC_000011.9:g.5248160C>G, HBB(NM_000518.4):c.92G>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248160C>G
DNA change (hg38) g.5226930C>G
Published as CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr)
ISCN -
DB-ID HBB_000742 See all 22 reported entries
Variant remarks β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-100
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
Owner IthaNet - Petros Kountouris
Database submission license No license selected
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.92G>C Hb Monroe r.(?) p.(Arg31Thr)