Variant #0000001103 (NC_000016.9:g.203509_225434del)

Individual ID 00001094
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.203509_225434del
Reference Long et al
DB-ID chr16_000009
Frequency -
Variant remarks Qinzhou type deletion
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     
0000001093 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming