Variant #0000603395 (NC_000011.9:g.5246925G>T, HBB(NM_000518.4):c.347C>A)

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.5246925G>T
DNA change (hg38) g.5225695G>T
Published as CD 115 (GCC>GAC) Ala to Asp
ISCN -
DB-ID HBB_000946 See all 2 reported entries
Variant remarks β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-239
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. - c.347C>A Hb Hradec Kralove (HK) r.(?) p.(Ala116Asp)