Gene TTN 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: TTN
Disorder: Muscular dystrophy
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 TTN gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 585 |
179526532 |
TTN |
NM_001267550.2:c.37239dupA |
NP_001254479.2:p.Val12414Serfs*7 |
1 |
0.000419% |
| 586 |
179544351 |
TTN |
NM_001267550.2:c.33639delG |
NP_001254479.2:p.Lys11214Argfs*130 |
1 |
0.000419% |
| 587 |
179549704 |
TTN |
NM_001267550.2:c.32483delC |
NP_001254479.2:p.Pro10828Leufs*53 |
1 |
0.000419% |
