Variant #0000001123 (NC_000011.9:g.5246864delT)

Individual ID 00000456
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type Deletion
DNA change (genomic) (Relative to hg19 / GRCh37) g.5246864delT
Reference Shang et al
DB-ID HBB_000007 See all 7 reported entries
Frequency -
Variant remarks -
ClassClinical Pathogenic
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Qi Ming
Database submission license No license selected
Created by Qi Ming
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Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

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0000000455 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 67 Qi Ming