Variant #0000000221 (NC_000011.10:g.5226975C>T, NM_000518.4:c.47G>A (HBB))

Individual ID 00000049
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226975C>T
Published as -
Reference Yatim et al. (2014)dbSNP
DB-ID HBB_000020 See all 7 reported entries
dbSNP ID rs63750783
Frequency 2/40
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 2020-10-06 14:00:09 +08:00 (CST)
Date last edited 2021-08-18 16:33:33 +08:00 (CST)
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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.47G>A - r.(?) p.(Trp16*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000062 DNA PCRm HBB 6 MyHVP