Gene CRB2 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: CRB2
Disorder: Congenital nephrosis, Finnish type-like, with cerebral ventriculomegaly & raised alpha-fetoprotein
Allele Frequency: 0.00041876
Carrier Rate: 0.00083717
Max At-Risk Couples rate: 0.000000701
The table below lists all clinically relevant variants identified in the CRB2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 785 |
126135888 |
CRB2 |
NM_173689.7:c.3089_3104dup |
NP_775960.4:p.Gly1036Alafs*43 |
1 |
0.000419% |
