Variant #0000000236 (NC_000011.10:g.5226675dupT, HBB(NM_000518.4):c.217dupA)

Individual ID 00000052
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226675dupT
Published as CD 71/72 (+A)
Reference Sarifah Hanafi et al. (2014), ClinVardbSNP
DB-ID HBB_000019 See all 16 reported entries
dbSNP ID rs33969853
Frequency 1/46
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
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.217dupA CD 71/72 (+A) r.(?) p.(Ser73Lysfs*2) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000065 DNA PCRm HBB 8 Nuur Athirah Binti Mohd Daud