Gene RARS2 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: RARS2
Disorder: Pulmonary arterial hypertension
Allele Frequency: 0.00293132
Carrier Rate: 0.00584546
Max At-Risk Couples rate: 0.0000342
The table below lists all clinically relevant variants identified in the RARS2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 76 |
88229382 |
RARS2 |
NM_020320.5:c.1156C>T |
NP_064716.2:p.Arg386Ter |
5 |
0.002094% |
| 287 |
88255392 |
RARS2 |
NM_020320.5:c.474_477delAGAA |
NP_064716.2:p.Glu159Leufs*2 |
2 |
0.000838% |
