Variant #0000001121 (NC_000011.9:g.5247980G>A)

Individual ID 00001444
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247980G>A
Reference (OMIM 0080);dbSNP;Chen SS et al.;Schiliro G et al.;Sick K et al.;
DB-ID chr11_000226
Frequency -
Variant remarks Hb G-Copenhagen
ClassClinical uncertain significance
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Qi Ming
Database submission license No license selected
Created by Qi Ming
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Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

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Owner     
0000001443 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 67 Qi Ming