Variant #0000603192 (NC_000011.9:g.5248328T>A, HBB(NM_000518.4):c.-77A>T)

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.5248328T>A
DNA change (hg38) g.5227098T>A
Published as -27 (A>T)
ISCN -
DB-ID HBB_004032
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-30
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.-77A>T - r.(=) p.(=)