Variant #0000000165 (NC_000011.10:g.5226929C>T, NC_000011.10(NM_000518.4):c.92+1G>A (HBB))

Individual ID 00000028
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226929C>T
Published as -
Reference Hassan S et al. 2013dbSNP
DB-ID HBB_000013 See all 5 reported entries
dbSNP ID rs33971440
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 2018-12-26 16:37:15 +08:00 (CST)
Date last edited 2021-08-18 12:35:15 +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 +/. - c.92+1G>A - r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000040 DNA PCRm HBB 12 MyHVP