Variant #0000001102 (NC_000011.9:g.5248158T>C)

Individual ID 00001102, 00001107, 00001108, 00001121, 00001127, 00001130
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.5248158T>C
Reference (OMIM 0350);dbSNP;Goncalves J et al.;Gonzalez-Redondo JM et al.;
DB-ID chr11_000133
Frequency -
Variant remarks IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0
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     
0000001101 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 53 Qi Ming
0000001106 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 63 Qi Ming
0000001107 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 60 Qi Ming
0000001120 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001126 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 62 Qi Ming
0000001129 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 54 Qi Ming