Gene TMEM231 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: TMEM231
Disorder: Meckel syndrome
Allele Frequency: 0.000837521
Carrier Rate: 0.00167364
Max At-Risk Couples rate: 0.0000028
The table below lists all clinically relevant variants identified in the TMEM231 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 503 |
75579778 |
TMEM231 |
NM_001077416.2:c.543dupC |
NP_001070884.2:p.Thr182Hisfs*79 |
1 |
0.000419% |
| 504 |
75589750 |
TMEM231 |
NM_001077416.2:c.420dupC |
NP_001070884.2:p.Ala141Argfs*18 |
1 |
0.000419% |
