PTBP1 inframe variants in ExAC

PTBP1 gene summary
PTBP1 variants in

The table below lists the PTBP1 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. 806458 c.1021_1022insCGG p.Ala346dup inframe 0.00015187●●●●●●
2. 806459 c.1022_1024delCGG p.Ala348del inframe 0.00007087●●●●●●
3. 806469 c.1032_1033insGCA p.Ala344dup inframe 0.00002052●●●●●●
4. 806464 c.1027_1038delGCGGCGGCAGCT p.Ala343_Ala346del inframe 0.00002041●●●●●●
5. 806466 c.1029_1038delGGCGGCAGCTinsGGCGGCAGCGGCAGCT p.Ala345_Ala346dup inframe 0.00002040●●●●●●
6. 806475 c.1038_1039insGCGGCAGCT p.Ala344_Ala346dup inframe 0.00001020●●●●●●
7. 806467 c.1030_1038delGCGGCAGCT p.Ala344_Ala346del inframe 0.00001020●●●●●●
8. 806459 c.1022_1036delCGGCGGCGGCGGCAG p.Ala342_Ala346del inframe 0.00001012●●●●●●
9. 806459 c.1022_1030delCGGCGGCGG p.Ala344_Ala346del inframe 0.00001012●●●●●●
10. 803614 c.93_94insAGC p.Met31_Ser32insSer inframe 0.00000825●●●●●●

* 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.