Variant #0000001141 (NC_000011.9:g.5248332A>C)

Individual ID 00000374, 00001664, 00001687, 00001715, 00001962, 00001963
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.5248332A>C
Reference dbSNP;
DB-ID chr11_000055
Frequency -
Variant remarks -31 (A->C) beta+
ClassClinical Pathogenic
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Qi Ming
Database submission license No license selected
Created by Qi Ming




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000373 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 51 Qi Ming
0000001663 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 47 Qi Ming
0000001686 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 68 Qi Ming
0000001714 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, KLF1, MYB 52 Qi Ming
0000001961 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001962 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 56 Qi Ming