Variant #0000002847 (NC_000011.10:g.5226763_5226766delAAAG, HBB(NM_000518.4):c.126_129delCTTT)

Individual ID 00000675
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226763_5226766delAAAG
Published as -
Reference Jin-Ai M A Tan et al.(2014)
DB-ID HBB_000014 See all 39 reported entries
dbSNP ID rs80356821
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBB NM_000518.4 +/. - c.126_129delCTTT c.127_130delCTTT, CD41/42 r.(?) p.(Phe42Leufs*19) - Pathogenic/Likely pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000742 DNA PCRm;SEQ HBB 2 Nur Aisyah Athirah