Unique variants in the PSEN1 gene

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 2 4 c.286G>T - r.(?) p.(Val96Phe) Known pathogenic mutation (EOAD) g.73170995G>T - Vo Van Giau et al.(2019) PSEN1_000001 rs63750601 - - Nur Aisyah Athirah
+/. 3 8 c.838G>A - r.(?) p.(Glu280Lys) Novel mutation, may be involved in EOAD g.73198099G>A - Vo Van Giau et al.(2019) PSEN1_000002 rs80190110 - - Nur Aisyah Athirah
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