Variant #0000001096 (NC_000011.9:g.5248050G>A)

Individual ID 00001700, 00001997
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.5248050G>A
Reference (OMIM 0364);dbSNP;
DB-ID chr11_000140
Frequency -
Variant remarks IVS-I-110 (G->A)
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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001699 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 43 Qi Ming
0000001996 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 59 Qi Ming