Variant #0000000370 (NC_000011.10:g.5225664_5225672delTGGTGGGGT, HBB(NM_000518.4):c.370_378delACCCCACCA)

Individual ID 00000068
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5225664_5225672delTGGTGGGGT
Published as CD 123-125 (-ACCCCACC) >135aa
Reference Lai Kuan Teh et al. (2014), dbSNP
DB-ID HBB_000041
dbSNP ID rs281864902
Frequency 1/504
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 +/. 3 c.370_378delACCCCACCA CD 123-125 (-ACCCCACC) >135aa r.(?) p.(Thr124_Pro126del) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000081 DNA PCRm HBB 14 Nuur Athirah Binti Mohd Daud