Variant #0000001146 (NC_000011.9:g.5248167delC)

Individual ID 00000005, 00000019, 00000020, 00000064, 00000200, 00000222, 00000260, 00000282, 00000744, 00000849, 00000857, 00000883, 00001115, 00001695, 00001749, 00001857
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type Deletion
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248167delC
Reference Shang et al
DB-ID HBB_000007 See all 7 reported entries
Frequency -
Variant remarks -
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     
0000000004 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 63 Qi Ming
0000000018 DNA SEQ-NG-I BCL11A, HBA2, HBD, HBE1, HBG1, HBG2 24 Qi Ming
0000000019 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 71 Qi Ming
0000000063 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 64 Qi Ming
0000000199 DNA SEQ-NG-I BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 32 Qi Ming
0000000221 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 69 Qi Ming
0000000259 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming
0000000281 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 70 Qi Ming
0000000743 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 64 Qi Ming
0000000848 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 Qi Ming
0000000856 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 71 Qi Ming
0000000882 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 64 Qi Ming
0000001114 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 70 Qi Ming
0000001694 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 72 Qi Ming
0000001748 DNA SEQ-NG-I BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 30 Qi Ming
0000001856 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 70 Qi Ming