Gene RNASEH2A 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: RNASEH2A
Disorder: Aicardi-Goutieres syndrome 4
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 RNASEH2A gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 233 |
12921138 |
RNASEH2A |
NM_006397.2:c.557G>A |
p.Arg186Gln |
2 |
0.000838% |
| 555 |
12920941 |
RNASEH2A |
NM_006397.3:c.470_471delTT |
NP_006388.2:p.Phe157Serfs*4 |
1 |
0.000419% |
