Variant #0000001113 (NC_000016.9:g.227055G>C)

Individual ID 00001096, 00001335
Chromosome 16
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.227055G>C
Reference Hu et al
DB-ID chr16_000076
Frequency -
Variant remarks Hb Q-Thailand
ClassClinical Pathogenic
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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001095 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 Qi Ming
0000001334 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 60 Qi Ming