OBSCN inframe variants in ExAC

OBSCN gene summary
OBSCN variants in

The table below lists the OBSCN inframe 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. 228399615 c.131_133delAGA p.Lys45del inframe 0.00015348●●●●●●
2. 228400211 c.727_728insGCACGCGCACCT p.Gly243_Thr244insThrArgThrCys inframe 0.00002990●●●●●●
3. 228400262 c.778_779insACG p.Y260delinsYD inframe 0.00034349●●●●●●
4. 228400356 c.872_874delAGG p.Glu292del inframe 0.00001712●●●●●●
5. 228404742 c.2406_2408delGGC p.Ala803del inframe 0.00000850●●●●●●
6. 228412272 c.2766_2768delGTG p.Trp923del inframe 0.00000828●●●●●●
7. 228444621 c.4579_4584delGTGGCA p.Val1527_Ala1528del inframe 0.00000838●●●●●●
8. 228462456 c.5867_5868insCAT p.Thr1956_Ile1957insIle inframe 0.00000999●●●●●●
9. 228469716 c.8280_8282delCCA p.His2761del inframe 0.00000834●●●●●●
10. 228469853 c.8417_8418insGGT p.Glu2806_Val2807insVal inframe 0.00000852●●●●●●
11. 228475498 c.9648_9650delGTG p.Trp3217del inframe 0.00000830●●●●●●
12. 228475797 c.9847_9849delAAG p.Lys3283del inframe 0.00000829●●●●●●
13. 228479666 c.10407_10409delGTG p.Trp3470del inframe 0.00000829●●●●●●
14. 228494800 c.12125_12127delAGG p.Glu4043del inframe 0.00003324●●●●●●
15. 228495161 c.12395_12396insGGC p.Glu4132_Ala4133insAla inframe 0.00001637●●●●●●
16. 228503701 c.13166_13168delTCT p.Phe4391del inframe 0.00001669●●●●●●
17. 228528448 c.17556_17564delGAACAGACA p.Asn5853_Gln5855del inframe 0.00000970●●●●●●
18. 228529167 c.17886_17888delGGA p.Glu5963del inframe 0.00000869●●●●●●

* 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.