Variant #0000000223 (NC_000011.10:g.5226963T>C, HBB(NM_000518.4):c.59A>G)

Individual ID 00000050
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226963T>C
Published as -
Reference Yatim et al. (2014)dbSNP
DB-ID HBB_000012 See all 23 reported entries
dbSNP ID rs33972047
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
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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.59A>G - r.(?) p.(Asn20Ser) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000063 DNA PCRm HBB 2 MyHVP