Variant #0000001140 (NC_000011.9:g.5134113_5252589del)

Individual ID 00001104, 00001129, 00001131, 00001145
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.5134113_5252589del
Reference Shang et al
DB-ID chr11_000075
Frequency -
Variant remarks Filipino del
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     
0000001103 DNA SEQ-NG-I BCL11A, HBD, HBE1, HBG1, HBG2 59 Qi Ming
0000001128 DNA SEQ-NG-I BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 68 Qi Ming
0000001130 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 51 Qi Ming
0000001144 DNA SEQ-NG-I BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 69 Qi Ming