Variant #0000003693 (NC_000011.10:g.5227020A>C, HBB(NM_000518.4):c.2T>G)

Individual ID 00000997
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5227020A>C
Published as ATG>AGG
Reference dbSNP
DB-ID HBB_000036 See all 5 reported entries
dbSNP ID rs33941849
Frequency -
Variant remarks
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nurul Atika Binti Musa
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nurul Atika Binti Musa
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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 +/. - c.2T>G ATG>AGG r.? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001182 DNA PCR HBB 2 Nurul Atika Binti Musa