Full data view for gene ABCA12

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

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DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

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Owner     
+/. - c.859C>T - r.(?) p.(Arg287*) Pathogenic Unknown g.215045850G>A - Sanae Numata et al.(2015) ABCA12_000002 rs11891778 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.3085G>A - r.(?) p.(Glu1029Lys) - Unknown g.215000799C>T - Sanae Numata et al.(2015) ABCA12_000003 rs1064797003 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
?/. - c.3239T>A - r.(?) p.(Phe1080Tyr) - Unknown g.214997750A>T - Sanae Numata et al.(2015) ABCA12_000001 rs1169776576 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.3295-1G>A - r.spl? p.? - Unknown g.214991032C>T - Sanae Numata et al.(2015) ABCA12_000004 - 1/17 - DNA PCR ARCI Sanae Numata et al.(2015) - Malaysia Malay - - - 1 Nur Aisyah Athirah
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