Variant #0000603321 (NC_000011.9:g.5247946_5247958del, HBB(NM_000518.4):c.165_177del)

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.5247946_5247958del
DNA change (hg38) g.5226716_5226728del
Published as CD 54-58 (-13bp), 165_177delTATGGGCAACCCT
ISCN -
DB-ID HBB_004067
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-164
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.165_177del - r.(?) p.(Met56Argfs*2)