Variant #0000001086 (NC_000011.9:g.5246716A>G)

Individual ID 00000485, 00001132, 00001809
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.5246716A>G
Reference (OMIM 0386);dbSNP;Jankovic L et al.;
DB-ID chr11_000665
Frequency -
Variant remarks Poly A (A->G); AATAAA->AATAGA beta+
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     
0000000484 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001131 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2 50 Qi Ming
0000001808 DNA SEQ-NG-I BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L 56 Qi Ming