Variant #0000001120 (NC_000011.9:g.5248259_5248262delAAAC)

Individual ID 00000168
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Type Deletion
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248259_5248262delAAAC
Reference Huang et al;dbSNP
DB-ID chr11_000070
Frequency -
Variant remarks Cap +43/+40 (-AAAC)
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     
0000000167 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming