Individual #00000209

Reference Shang X,et al.(2017)
Remarks Medical Genetics Department of Southern Medical University
α-thal genotype SEA/3.7
β-thal genotype N/N
Gender M
Age 5
Panel size 1
Diseases alpha-thal, HbH
Owner name Qi Ming
Database submission license No license selected
Created by Qi Ming


Phenotypes

alpha thalassemia (alpha-thal)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

age of onset(months)     

HbA2(+E)%     

HbF%     

HGB(g/L)     

MCH(pg)     

MCV(fL)     

transfusion times per year     

Owner     
0000000208 - - - - 1.2 87 16.6 61 - Qi Ming



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000208 DNA SEQ-NG-I BCL11A 9 Qi Ming



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

Effect     

Type     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #1 +/. Substitution g.60689441T>C GenBank;dbSNP BCL11A_000001 - - Likely benign Qi Ming BCL11A 4 NM_022893.3:c.606A>G r.(=) p.(=)
2 Parent #1 +/. Substitution g.60713235A>G GenBank;dbSNP BCL11A_000015 - - Likely benign Qi Ming BCL11A - NM_022893.3:c.386-17267T>C r.(=) p.(=)
2 Parent #1 +/. Substitution g.60714861A>C GenBank;dbSNP BCL11A_000003 - - Likely benign Qi Ming BCL11A - NM_022893.3:c.386-18893T>G r.(=) p.(=)
2 Parent #1 +/. Substitution g.60718043T>G GenBank;dbSNP BCL11A_000004 - - Likely benign Qi Ming BCL11A - NM_022893.3:c.386-22075A>C r.(=) p.(=)
2 Parent #1 +/. Substitution g.60718347C>T GenBank;dbSNP BCL11A_000014 - - Likely benign Qi Ming BCL11A - NM_022893.3:c.386-22379G>A r.(=) p.(=)
2 Parent #1 +/. Substitution g.60719970C>A GenBank;dbSNP BCL11A_000013 - - Likely benign Qi Ming BCL11A - NM_022893.3:c.386-24002G>T r.(=) p.(=)
2 Parent #1 +/. Substitution g.60720951A>G GenBank;dbSNP BCL11A_000007 - - Likely benign Qi Ming BCL11A - NM_022893.3:c.386-24983T>C r.(=) p.(=)
16 Parent #1 +/. Deletion g.215400_234700del Xu et al chr16_000013 - - -SEA Pathogenic Qi Ming - - - -
16 Parent #1 +/. Deletion g.223300_227103del Xu et al chr16_000022 - -a3.7 Pathogenic Qi Ming - - - -
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