Variant #0000000132 (NC_000011.9:g.5301648G>A)

Individual ID 00000017, 00000738
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.5301648G>A
Reference GenBank;dbSNP
DB-ID HBE1_000010 See all 2 reported entries
Frequency -
Variant remarks -
ClassClinical uncertain significance
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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000016 DNA SEQ-NG-I BCL11A, HBD, HBE1, HBG1, HBG2 19 Qi Ming
0000000737 DNA SEQ-NG-I BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 30 Qi Ming