Gene RTTN 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: RTTN
Disorder: Primary microcephaly & primordial dwarfism
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 RTTN gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 550 |
67741141 |
RTTN |
NM_173630.4:c.4653+1G>A |
|
1 |
0.000419% |
| 551 |
67794828 |
RTTN |
NM_173630.4:c.3293dupA |
NP_775901.3:p.Tyr1098Ter |
1 |
0.000419% |
| 552 |
67801778 |
RTTN |
NM_173630.4:c.2886-1G>A |
|
1 |
0.000419% |
