Variant #0000603414 (NC_000011.9:g.5246875_5246876insAGGC, HBB(NM_000518.4):c.396_397insGCCT)

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.5246875_5246876insAGGC
DNA change (hg38) g.5225645_5225646insAGGC
Published as CD 131/132 (+GCCT)
ISCN -
DB-ID HBB_004137
Variant remarks β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-259
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.396_397insGCCT - r.(?) p.(Lys133Alafs*2)