Gene TGM1 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: TGM1
Disorder: Ichthyosiform erythroderma, congenital, nonbullous
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the TGM1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 195 |
24728950 |
TGM1 |
NM_000359.3:c.944G>T |
NP_000350.1:p.Arg315Leu |
2 |
0.000838% |
| 443 |
24728926 |
TGM1 |
NM_000359.3:c.968G>A |
NP_000350.1:p.Arg323Gln |
1 |
0.000419% |
