Variant #0000001142 (NC_000016.9:g.219817_224074dup)

Individual ID 00000933, 00001254, 00001988, 00001989, 00002090, 00002091, 00002092, 00002094, 00002093
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.219817_224074dup
Reference Shang et al
DB-ID chr16_000015
Frequency -
Variant remarks αααanti4.2
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     
0000000932 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 56 Qi Ming
0000001253 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 57 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
0000002096 DNA SEQ-NG HBA1, HBA2, HBB 2 Qianqian Zhang
0000002097 DNA SEQ-NG HBA1, HBA2, HBB 2 Qianqian Zhang
0000002098 DNA SEQ-NG HBA1, HBA2, HBB 2 Qianqian Zhang
0000002099 DNA SEQ-NG HBA1, HBA2, HBB 2 Qianqian Zhang
0000002100 DNA SEQ-NG HBA1, HBA2, HBB 2 Qianqian Zhang