Variant #0000001149 (NC_000016.9:g.223300_227103dup)

Individual ID 00000245, 00001325, 00001474, 00001988, 00001989, 00001994, 00001995, 00002089
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Type Duplication
DNA change (genomic) (Relative to hg19 / GRCh37) g.223300_227103dup
Reference Shang et al
DB-ID chr16_000023
Frequency -
Variant remarks αααanti3.7
ClassClinical Uncertain significance
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     
0000000244 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 51 Qi Ming
0000001324 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001473 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 59 Qi Ming
0000001987 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001988 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 58 Qi Ming
0000001993 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB 50 Qi Ming
0000001994 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000002094 DNA SEQ-NG HBA1, HBA2, HBB 2 Qianqian Zhang