Variant #0000603846 (NC_000011.9:g.5246887C>G, HBB(NM_000518.4):c.385G>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.5246887C>G
DNA change (hg38) g.5225657C>G
Published as CD 128 GCT>CCT
ISCN -
DB-ID HBB_000977 See all 2 reported entries
Variant remarks β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-1241
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.385G>C Hb Mont Saint Aignan r.(?) p.(Ala129Pro)