Variant #0000001128 (NC_000011.9:g.5247992G>T)

Individual ID 00000016, 00000115, 00000516, 00000692, 00000694, 00000695, 00000714, 00000946, 00000966, 00001178, 00001332, 00001564, 00001600, 00001630, 00001773
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.5247992G>T
Reference (OMIM 0316);dbSNP;Chen et al.
DB-ID chr11_000215
Frequency -
Variant remarks Codon 43 (G->T)
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     
0000000015 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 59 Qi Ming
0000000114 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB 57 Qi Ming
0000000515 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000000691 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 60 Qi Ming
0000000693 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 61 Qi Ming
0000000694 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 69 Qi Ming
0000000713 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 70 Qi Ming
0000000945 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 61 Qi Ming
0000000965 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 68 Qi Ming
0000001177 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 68 Qi Ming
0000001331 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 69 Qi Ming
0000001563 DNA SEQ-NG-I BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 28 Qi Ming
0000001599 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 69 Qi Ming
0000001629 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 71 Qi Ming
0000001772 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 69 Qi Ming