Variant #0000001084 (NC_000011.9:g.5248155G>C)

Individual ID 00001098, 00001101, 00001105, 00001106, 00001109, 00001113, 00001122, 00001123, 00001125, 00001131, 00001133, 00001135, 00001139, 00001140, 00001144
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.5248155G>C
Reference (OMIM 0357);dbSNP;Kulozik AE et al.;Treisman R et al.;Divoky V et al.;Kazazian HH Jr et al.;
DB-ID chr11_000136
Frequency -
Variant remarks IVS-I-5 (G->C) beta+ (severe)
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     
0000001097 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 61 Qi Ming
0000001100 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001104 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 63 Qi Ming
0000001105 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001108 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 56 Qi Ming
0000001112 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 57 Qi Ming
0000001121 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 65 Qi Ming
0000001122 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming
0000001124 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming
0000001130 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 51 Qi Ming
0000001132 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 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
0000001139 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 64 Qi Ming
0000001143 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 69 Qi Ming