Variant #0000001136 (NC_000011.9:g.5248206_5248207insG)

Individual ID 00000138, 00000832, 00001153
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Type Insertion
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248206_5248207insG
Reference Xiong et al
DB-ID chr11_000110
Frequency -
Variant remarks Codons 14/15 (+G)
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     
0000000137 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000000831 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming
0000001152 DNA SEQ-NG-I BCL11A, HBB, HBD, HBE1, HBG1, HBG2 49 Qi Ming