Variant #0000603354 (NC_000011.9:g.5247820_5247821delinsAAGTTCTCAGA, HBB(NM_000518.4):c.301_302delinsTCTGAGAACTT)

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.5247820_5247821delinsAAGTTCTCAGA
DNA change (hg38) g.5226590_5226591delinsAAGTTCTCAGA
Published as CD 100 (-CC,+TCTGAGAACTT) >158aa, 301_302delCCinsTCTGAGAACTT
ISCN -
DB-ID HBB_004117
Variant remarks β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-198
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.301_302delinsTCTGAGAACTT - r.(?) p.(Pro101delinsSerGluAsnPhe)