All variants in the BCL11A gene

Information The variants shown are described using the NM_022893.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. - c.385+34598T>C r.(=) p.(=) Substitution g.60738508A>G Yunli Lai,et al ;dbSNP BCL11A_000008 - - Likely benign Qi Ming
./. 4 c.606A>G r.(=) p.(=) Substitution g.60689441A>G Shang et al.(2017),dbSNP BCL11A_000001 - Elevated HbF Likely benign Qianqian Zhang
./. - c.386-34376C>T r.(=) p.(=) Substitution g.60730344G>A Yi S, et al;dbSNP BCL11A_000010 - - Likely benign Qi Ming
./. - c.386-33326C>T r.(=) p.(=) Substitution g.60729294G>A Yunli Lai,et al ;dbSNP BCL11A_000016 46/96 - Likely benign Qi Ming
./. - c.386-24983T>C r.(=) p.(=) Substitution g.60720951A>G GenBank;dbSNP BCL11A_000007 - - Likely benign Qi Ming
./. - c.386-24983T>C r.(=) p.(=) Substitution g.60720951A>G GenBank;dbSNP BCL11A_000011 - - Likely benign Qi Ming
?/. - c.386-24983T>C r.(=) p.(=) Substitution g.60720951A>G Yunyan He,et al BCL11A_000011 - - Likely benign Qi Ming
?/. - c.386-24278G>A r.(=) p.(=) Substitution g.60720246C>T Chen QR, et al; dbSNP BCL11A_000017 - - Likely benign Qi Ming
./. - c.386-24002G>T r.(=) p.(=) Substitution g.60719970C>A GenBank;dbSNP BCL11A_000013 - - Likely benign Qi Ming
./. - c.386-24002G>T r.(=) p.(=) Substitution g.60719970C>A GenBank;dbSNP BCL11A_000006 - - Likely benign Qi Ming
./. - c.386-24002G>T r.(=) p.(=) Substitution g.60719970C>A dbSNP BCL11A_000013 35/60 Correlation Between Fetal Hemoglobin and Single Nucleotide Polymorphism at BCL11A Gene in major beta-thalassemia Patients in Guangxi province. Likely benign Qi Ming
./. - c.386-22379G>A r.(=) p.(=) Substitution g.60718347C>T GenBank;dbSNP BCL11A_000014 - - Likely benign Qi Ming
./. - c.386-22379G>A r.(=) p.(=) Substitution g.60718347C>T GenBank;dbSNP BCL11A_000005 - - Likely benign Qi Ming
./. - c.386-22379G>A r.(=) p.(=) Substitution g.60718347C>T Yunli Lai,et al ;dbSNP BCL11A_000014 - - Likely benign Qi Ming
./. - c.386-22075A>C r.(=) p.(=) Substitution g.60718043T>G GenBank;dbSNP BCL11A_000004 - - Likely benign Qi Ming
./. - c.386-22075A>C r.(=) p.(=) Substitution g.60718043T>G GenBank;dbSNP BCL11A_000018 - - Likely benign Qi Ming
./. - c.386-22075A>C r.(=) p.(=) Substitution g.60718043T>G dbSNP BCL11A_000018 34/60 Correlation Between Fetal Hemoglobin and Single Nucleotide Polymorphism at BCL11A Gene in major beta-thalassemia Patients in Guangxi province. Likely benign Qi Ming
./. - c.386-18893T>G r.(=) p.(=) Substitution g.60714861A>C GenBank;dbSNP BCL11A_000003 - - Likely benign Qi Ming
./. - c.386-18893T>G r.(=) p.(=) Substitution g.60714861A>C GenBank;dbSNP BCL11A_000012 - - Likely benign Qi Ming
./. - c.386-17267T>C r.(=) p.(=) Substitution g.60713235A>G GenBank;dbSNP BCL11A_000015 - - Likely benign Qi Ming
./. - c.386-17267T>C r.(=) p.(=) Substitution g.60713235A>G GenBank;dbSNP BCL11A_000002 - - Likely benign Qi Ming
./. - c.386-8965T>A r.(=) p.(=) Substitution g.60704933T>A Yi S, et al;dbSNP BCL11A_000009 298/986 - Likely benign Qi Ming
./. - c.386-8516A>T r.(=) p.(=) Substitution g.60704484T>A Yi S, et al;dbSNP BCL11A_000019 - - Likely benign Qi Ming
./. 4 c.606A>G r.(=) p.(=) Substitution g.60689441T>C GenBank;dbSNP BCL11A_000001 - - Likely benign Qi Ming
./. 4 c.606A>G r.(=) p.(=) Substitution g.60689441T>C GenBank;dbSNP BCL11A_000001 - - Likely benign Qi Ming
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