Variant #0000001101 (NC_000016.9:g.199800_233300del)

Individual ID 00000940, 00001449, 00001510, 00001656, 00001692, 00001713, 00001807, 00001977, 00001978, 00001979, 00001980, 00001981
Chromosome 16
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.199800_233300del
Reference Xu et al
DB-ID chr16_000007
Frequency -
Variant remarks - -TAIL
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     
0000000939 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 Qi Ming
0000001448 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 Qi Ming
0000001509 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 Qi Ming
0000001655 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001691 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 55 Qi Ming
0000001712 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 70 Qi Ming
0000001806 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 Qi Ming
0000001976 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 Qi Ming
0000001977 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 55 Qi Ming
0000001978 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 53 Qi Ming
0000001979 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 60 Qi Ming
0000001980 DNA SEQ-NG-I BCL11A, HBD 11 Qi Ming