Variant #0000603234 (NC_000011.9:g.5248204C>T, HBB(NM_000518.4):c.48G>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.5248204C>T
DNA change (hg38) g.5226974C>T
Published as CD 15 TGG>TGA
ISCN -
DB-ID HBB_001115 See all 13 reported entries
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-73
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 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.48G>A - r.(?) p.(Trp16*)