Gene BCHE Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: BCHE
Disorder: Butyrylcholinesterase deficiency
Allele Frequency: 0.0121441
Carrier Rate: 0.0239932
Max At-Risk Couples rate: 0.000575671
The table below lists all clinically relevant variants identified in the BCHE gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 10 |
165548529 |
BCHE |
NM_000055.4:c.293A>G |
p.Asp98Gly |
27 |
0.011307% |
| 667 |
165547818 |
BCHE |
NM_000055.4:c.1004T>C |
NP_000046.1:p.Leu335Pro |
1 |
0.000419% |
| 668 |
165548238 |
BCHE |
NM_000055.4:c.584delG |
NP_000046.1:p.Gly195Valfs*16 |
1 |
0.000419% |
