Variant #0000001090 (NC_000011.9:g.5247493_5248849del)

Individual ID 00000117, 00000521, 00001969, 00001970, 00001971, 00002029
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Type Deletion
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247493_5248849del
Reference Lou et al
DB-ID chr11_000076
Frequency -
Variant remarks Taiwanese (1.357kb β0)
ClassClinical Pathogenic
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Qi Ming
Database submission license No license selected
Created by Qi Ming




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000116 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000000520 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001968 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB 49 Qi Ming
0000001969 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 58 Qi Ming
0000001970 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 48 Qi Ming
0000002028 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 58 Qi Ming