Gene RAB3GAP2 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: RAB3GAP2
Disorder: Microphthalmia & cataract
Allele Frequency: 0.0041876
Carrier Rate: 0.00834014
Max At-Risk Couples rate: 0.0000696
The table below lists all clinically relevant variants identified in the RAB3GAP2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 99 |
220330767 |
RAB3GAP2 |
NM_012414.4:c.3400delG |
NP_036546.2:p.Val1134Trpfs*7 |
3 |
0.001256% |
| 100 |
220330777 |
RAB3GAP2 |
NM_012414.4:c.3390delG |
NP_036546.2:p.Trp1131Glyfs*10 |
3 |
0.001256% |
| 101 |
220330827 |
RAB3GAP2 |
NM_012414.4:c.3340delG |
NP_036546.2:p.Asp1114Metfs*27 |
3 |
0.001256% |
| 332 |
220387272 |
RAB3GAP2 |
NM_012414.4:c.230delA |
NP_036546.2:p.Asp77Valfs*14 |
1 |
0.000419% |
