PSEN2 truncating variants in ExAC

PSEN2 gene summary
PSEN2 variants in

The table below lists the PSEN2 truncating variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 227069744 c.136C>T p.Q46X nonsense 0.00000839●●●●●●
2. 227081781 c.1146_1147insG p.Asp384GlyfsTer91 frameshift 0.00000827●●●●●●
3. 227073377 c.495C>G p.Y165X nonsense 0.00000827●●●●●●
4. 227079542 c.1069_1070insA p.Arg358LysfsTer117 frameshift 0.00000825●●●●●●
5. 227071469 c.205delC p.Arg71GlyfsTer9 frameshift 0.00000825●●●●●●
6. 227076655 c.692_693insC p.Leu232ProfsTer32 frameshift 0.00000824●●●●●●
7. 227079446 c.973G>T p.E325X nonsense 0.00000824●●●●●●
8. 227077734 c.788-2A>T essential splice site 0.00000824●●●●●●
9. 227079442 c.971-2A>G essential splice site 0.00000824●●●●●●
10. 227075849 c.556_557insT p.Tyr187LeufsTer77 frameshift 0.00000824●●●●●●
11. 227079456 c.983_984insT p.Asp329Ter frameshift 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.