Variant #0000603731 (NC_000011.9:g.5247843G>Y, HBB(NM_000518.4):c.279C>R)

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.5247843G>Y
DNA change (hg38) g.5226613G>Y
Published as CD 92 CAC>CAA or CAG [His>Gln] (Hb Istanbul)
ISCN -
DB-ID HBB_000883 See all 2 reported entries
Variant remarks β-chain variant, Haemolytic anaemia
Reference IthaNet-1109
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner IthaNet - Petros Kountouris
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.279C>R Hb Saint Etienne r.(?) p.(His93Arg)