Variant #0000000411 (NC_000011.10:g.5226763_5226766delAAAG, NM_000518.4:c.126_129delCTTT (HBB))

Individual ID 00000076
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226763_5226766delAAAG
Published as CD 41/42 (-CTTT)
Reference Mohd Rashdan Abd Rahim et al. (2015), dbSNP, (OMIM 0326), ClinVar
DB-ID HBB_000014 See all 39 reported entries
dbSNP ID rs281864900
Frequency 3/12
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-21 14:55:58 +08:00 (CST)
Date last edited 2021-08-19 09:30:32 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBB NM_000518.4 +/. 2 c.126_129delCTTT CD 41/42 (-CTTT) r.(?) p.(Phe42Leufs*19) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000089 DNA PCRm HBB 9 Nuur Athirah Binti Mohd Daud