Full data view for gene HBA2

Information The variants shown are described using the NM_000517.6 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

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AscendingDNA change (cDNA)     

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RNA change     

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Allele     

DNA change (genomic) (hg38)     

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Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

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Technique     

Disease     

Reference     

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?/. - c.91G>C - r.(?) p.(Glu31Gln) - ClinVar Unknown g.33866G>C - Rahimah Ahmad et al.(2012),dbSNP HBA2_000006 rs111033605 1/150 - DNA PCR α-thalassaemia Rahimah Ahmad et al.(2012) - Malaysia Malay - - - 1 Noorzalifah Binti Mazuki
+/. - c.95+1G>A IVS-I-1 (G>A) r.spl? p.? - Pathogenic Unknown g.33871G>A - Hafiza Alauddin et al.(2018) HBA2_000003 rs63750158 - - DNA PCRm, SEQ α-thalassaemia Hafiza Alauddin et al.(2018) M Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.95+1G>A - r.spl? p.? - ClinVar Unknown g.173008G>A - Rahimah Ahmad et al.(2012),dbSNP HBA2_000003 rs63750158 23/150 - DNA PCR α-thalassaemia Rahimah Ahmad et al.(2012) - Malaysia Malay - - - 1 Noorzalifah Binti Mazuki
+/. - c.99G>A -α3.7/αα r.(?) p.(Met33Ile) - ClinVar Unknown g.223127G>A -α3.7/αα dbSNP HBA2_000005 rs41515552 - - DNA PCR α-thalassaemia Yong-Chui Wee et al. (2005) - Malaysia Indian - - - 1 Nurul Atika Binti Musa
?/. - c.99G>A - r.(?) p.(Met33Ile) - ClinVar Unknown g.173128G>A - Rahimah Ahmad et al.(2012),dbSNP HBA2_000005 rs41515552 86/150 - DNA PCR α-thalassaemia Rahimah Ahmad et al.(2012) - Malaysia Malay - - - 1 Noorzalifah Binti Mazuki
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay-Indian - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic​ Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic​ Unknown g.34071G>A - Jin-Ai M A Tan et al.(2014) HBA2_000002 rs281864846 - - DNA PCRm, SEQ HBB Jin-Ai M A Tan et al.(2014) - Miri, Sarawak Chinese - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Hafiza Alauddin et al.(2018) HBA2_000002 rs281864846 - - DNA PCRm, SEQ α-thalassaemia Hafiza Alauddin et al.(2018) M Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
?/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.173208G>A - S Shwe et al.(2020) HBA2_000002 rs281864846 - - DNA PCR, SEQ Neonatal Hyperbilirubinemia S Shwe et al.(2020) - Malaysia - - - - 1 Nur Aisyah Athirah
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar Unknown g.173208G>A - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174) HBA2_000002 rs281864846 2/312 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia - Sabah - - 1 Nuur Athirah Binti Mohd Daud
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar Unknown g.173208G>A - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174) HBA2_000002 rs281864846 2/558 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar Unknown g.173208G>A - Rahimah Ahmad et al. (2013){dbSNP:rs281864846ClinVar HBA2_000002 rs281864846 1/19 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia Orang Asli - - - 1 Nuur Athirah Binti Mohd Daud
?/. 2 c.179G>A - r.(?) p.(Gly60Asp) - - Unknown g.173208G>A - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174) HBA2_000002 rs281864846 9/3138 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
?/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar Unknown g.173208G>A - (OMIM [2])(OMIM [2])Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174)(OMIM [2]) HBA2_000002 rs281864846 3/26 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia - Sarawak - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.173208G>A - T Y Lee et al.(2016) HBA2_000002 rs281864846 - - DNA PCRm, SEQ α-thalassaemia T Y Lee et al.(2016) - Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.173208G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - DNA DHPLC, PCRm α-thalassaemia Hafiza Alauddin et al.(2014) F Malaysian Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.5362G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - DNA DHPLC, PCRm α-thalassaemia Hafiza Alauddin et al.(2014) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.5362G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - DNA DHPLC, PCRm α-thalassaemia Hafiza Alauddin et al.(2014) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic Unknown g.5362G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - DNA DHPLC, PCRm α-thalassaemia Hafiza Alauddin et al.(2014) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.300+55_*3587del -α3.7/αα r.? p.? - ClinVar Unknown NC_000016.10:g.173384_177187del -α3.7/αα dbSNP HBA1_000002 rs41515552 - - DNA PCR α-thalassaemia Yong-Chui Wee et al. (2005) - Malaysia Chinese - - - 1 Nurul Atika Binti Musa
+/. - c.300+55_*3587del - r.? p.? - - Unknown g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - DNA PCRm, SEQ HBB Jin-Ai M A Tan et al.(2014) - Lawas, Sarawak Malay - - - 1 Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - - Unknown g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - DNA PCRm, SEQ HBB Jin-Ai M A Tan et al.(2014) - Limbang, Sarawak Malay-Kedayan - - - 1 Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - - Unknown g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - DNA PCRm, SEQ HBB Jin-Ai M A Tan et al.(2014) - Limbang, Sarawak Malay-Bisayak - - - 1 Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - - Unknown g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - DNA PCRm, SEQ HBB Jin-Ai M A Tan et al.(2014) - Limbang, Sarawak Malay - - - 1 Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - Pathogenic Unknown g.34247_38050del g.34164_37967del3804 Jin Ai Mary Anne Tan et al.(2016) HBA1_000002 - - Hb -α3.7 DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
?/. - c.369C>G --SEA/αα r.(?) p.(His123Gln) - ClinVar Unknown g.223539C>G --SEA/αα dbSNP HBA2_000007 rs41479347 - - DNA PCR α-thalassaemia Yong-Chui Wee et al. (2005) - Malaysia Chinese - - - 1 Nurul Atika Binti Musa
+/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar Unknown g.173548T>C - Rahimah Ahmad et al. (2013)dbSNP HBA2_000001 rs41397847 13/558 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
?/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar Unknown g.173548T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0005) HBA2_000001 rs41397847 4/3138 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
?/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar Unknown g.173598T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0001) HBA1_000001 rs41464951 6/19 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia Orang Asli - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay-Indian - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar Unknown g.173598T>C - Rahimah Ahmad et al. (2013)dbSNP HBA1_000001 rs41464951 10/312 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia - Sabah - - 1 Nuur Athirah Binti Mohd Daud
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar Unknown g.173598T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0001) HBA1_000001 rs41464951 10/558 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogeic Unknown g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) F Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.173598T>C - Hafiza Alauddin et al.(2014) HBA1_000001 rs41464951 - - DNA DHPLC, PCRm α-thalassaemia Hafiza Alauddin et al.(2014) M Malaysia Malay - - - 1 Nur Aisyah Athirah
?/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar Unknown g.173598T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0001) HBA1_000001 rs41464951 17/3138 - ? ? α-thalassaemia Rahimah Ahmad et al. (2013) ? Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+?/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.173598T>C - S Shwe et al.(2020) HBA1_000001 rs41464951 - - DNA PCR, SEQ Neonatal Hyperbilirubinemia S Shwe et al.(2020) - Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic Unknown g.173598T>C - Hafiza Alauddin et al.(2014) HBA1_000001 rs41464951 - - DNA DHPLC, PCRm α-thalassaemia Hafiza Alauddin et al.(2014) F Malaysian Malay - - - 1 Nur Aisyah Athirah
+/. - c.429A>T - r.(?) p.(*143Tyrext*31) - Pathogenic Unknown g.34463A>T - Jin Ai Mary Anne Tan et al.(2016) HBA2_000004 rs41412046 - Hb Paksé DNA DHPLC α-thalassaemia Jin Ai Mary Anne Tan et al.(2016) M Malaysia Malay - - - 1 Nur Aisyah Athirah
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