Variant #0000001098 (NC_000011.9:g.5247802G>C)

Individual ID 00000028, 00000118, 00000144, 00000750, 00000961, 00000963, 00001022, 00001207, 00001520, 00001633, 00001647, 00001650, 00001668, 00001952, 00001953
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.5247802G>C
Reference dbSNP;Chen et al.
DB-ID chr11_000467
Frequency -
Variant remarks IVS-II-5 (G->C)
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     
0000000027 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000000117 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 51 Qi Ming
0000000143 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000000749 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000000960 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000000962 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001021 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 56 Qi Ming
0000001206 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001519 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 56 Qi Ming
0000001632 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001646 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001649 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001667 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming
0000001951 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001952 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 48 Qi Ming