RBM45 truncating variants in ExAC

RBM45 gene summary
RBM45 variants in

The table below lists the RBM45 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. 178988920 c.1135delA p.Ala382LeufsTer7 frameshift 0.00241180●●●●●●
2. 178986065 c.832C>T p.R278X nonsense 0.00006815●●●●●●
3. 178985948 c.715C>T p.R239X nonsense 0.00005025●●●●●●
4. 178982781 c.424-1G>A essential splice site 0.00004156●●●●●●
5. 178988920 c.1135dupA p.Ala382SerfsTer4 frameshift 0.00003445●●●●●●
6. 178982875 c.517C>T p.Q173X nonsense 0.00003323●●●●●●
7. 178988926 c.1141A>T p.K381X nonsense 0.00002475●●●●●●
8. 178982905 c.547C>T p.R183X nonsense 0.00001682●●●●●●
9. 178985040 c.577delA p.Asn194IlefsTer15 frameshift 0.00001654●●●●●●
10. 178988983 c.1198_1199delCC p.Pro400PhefsTer15 frameshift 0.00000831●●●●●●
11. 178985989 c.756_757delAA p.Arg253SerfsTer5 frameshift 0.00000831●●●●●●
12. 178986011 c.778C>T p.Q260X nonsense 0.00000830●●●●●●
13. 178988611 c.1040G>A p.W347X nonsense 0.00000827●●●●●●
14. 178988583 c.1012_1013insTAGC p.Ala340SerfsTer11 frameshift 0.00000827●●●●●●
15. 178988949 c.1164_1167delGAAA p.Glu390AspfsTer13 frameshift 0.00000826●●●●●●
16. 178988953 c.1168G>T p.E390X nonsense 0.00000826●●●●●●
17. 178982821 c.463A>T p.K155X nonsense 0.00000826●●●●●●

* 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.