Variant #0000001112 (NC_000011.9:g.5246931T>A)

Individual ID 00000101, 00000450, 00000489, 00000532, 00000717, 00000737, 00001095, 00001097, 00001488, 00001811, 00001844
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.5246931T>A
Reference (OMIM 0196);dbSNP;Viprakasit V et al.;Chang JG et al.;Zeng YT et al.;Sugihara J et al.;
DB-ID chr11_000524
Frequency -
Variant remarks Hb New York
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     
0000000100 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 54 Qi Ming
0000000449 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 53 Qi Ming
0000000488 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 60 Qi Ming
0000000531 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000000716 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000000736 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB 51 Qi Ming
0000001094 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 59 Qi Ming
0000001096 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 48 Qi Ming
0000001487 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 58 Qi Ming
0000001810 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 55 Qi Ming
0000001843 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming