Variant #0000001150 (NC_000011.9:g.5248193A>G)

Individual ID 00001125, 00001135, 00001139
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248193A>G
Reference (OMIM 0168);dbSNP;Ma SK et al.;Thein SL et al.;Yang KG et al.;
DB-ID chr11_000118
Frequency -
Variant remarks Hb Malay
ClassClinical Pathogenic
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Qi Ming
Database submission license No license selected
Created by Qi Ming
Options




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001124 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming
0000001134 DNA SEQ-NG-I BCL11A, HBA2, HBD, HBE1, HBG1, HBG2 23 Qi Ming
0000001138 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 64 Qi Ming