Variant #0000001122 (NC_000011.9:g.5248391C>T)

Individual ID 00000012, 00000022, 00000657, 00001082, 00001688
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.5248391C>T
Reference (OMIM 0425);dbSNP
DB-ID chr11_000042
Frequency -
Variant remarks -90 (C->T)
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     
0000000011 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 48 Qi Ming
0000000021 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000000656 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 52 Qi Ming
0000001081 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001687 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB 53 Qi Ming