CYP7A1 truncating variants in ExAC

CYP7A1 gene summary
CYP7A1 variants in

The table below lists the CYP7A1 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. 59404311 c.1238_1239delTT frameshift 0.00004133●●●●●●
2. 59409430 c.641_642delAA p.Lys214SerfsTer51 frameshift 0.00002471●●●●●●
3. 59409542 c.529C>T p.R177X nonsense 0.00002471●●●●●●
4. 59412577 c.80+1_80+5delGTAAG essential splice site 0.00001649●●●●●●
5. 59407063 c.1039+2T>A essential splice site 0.00001648●●●●●●
6. 59409615 c.456delC p.Met153Ter frameshift 0.00000829●●●●●●
7. 59404298 c.1251delG p.Lys418ArgfsTer13 frameshift 0.00000825●●●●●●
8. 59404298 c.1251dupG p.Lys418GlufsTer9 frameshift 0.00000825●●●●●●
9. 59409220 c.851G>A p.Trp284Ter nonsense 0.00000824●●●●●●
10. 59404983 c.1144C>T p.R382X nonsense 0.00000824●●●●●●
11. 59407145 c.959delA p.Glu320GlyfsTer16 frameshift 0.00000824●●●●●●
12. 59407102 c.1002_1005delTTTG p.Cys334Ter frameshift 0.00000824●●●●●●
13. 59409479 c.592C>T p.Q198X nonsense 0.00000824●●●●●●
14. 59404262 c.1287_1291delGTTAA p.Leu430ValfsTer35 frameshift 0.00000824●●●●●●
15. 59409264 c.807dupC p.Phe270LeufsTer2 frameshift 0.00000824●●●●●●
16. 59409517 c.554T>A p.L185X nonsense 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.