Variant #0000000170 (NC_000011.10:g.5226974C>T, NM_000518.4:c.48G>A (HBB))

Individual ID 00000029
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226974C>T
Published as -
Reference Hassan S et al. 2013dbSNP
DB-ID HBB_000017
dbSNP ID rs34716011
Frequency 1/169
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2019-11-07 15:09:10 +08:00 (CST)
Date last edited 2021-08-18 14:57:59 +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 +/. 1 c.48G>A - r.(?) p.(Trp16*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000041 DNA PCRm HBB 1 MyHVP