Full data view for gene HBA2

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

2 entries on 1 page. Showing entries 1 - 2.
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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     

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Ethnic origin     

Population     

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Microattribution     

Panel size     

Owner     
+/. - 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
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