Full data view for gene HBA2

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Panel size     

Owner     
+/. - 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 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
+/. 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
+/. - 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.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.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.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
+/. - 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
?/. 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
?/. 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 - 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) - 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
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