Gene CUBN 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: CUBN
Disorder: Albuminuria, association with
Allele Frequency: 0.0217755
Carrier Rate: 0.0426027
Max At-Risk Couples rate: 0.00181499
The table below lists all clinically relevant variants identified in the CUBN gene based on the Emirati cohort dataset.
id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
28 |
16946073 |
CUBN |
NM_001081.4:c.7954delT |
NP_001072.2:p.Ser2652Glnfs*24 |
10 |
0.004188% |
32 |
17110074 |
CUBN |
NM_001081.4:c.2997delA |
NP_001072.2:p.Ser1000Profs*21 |
8 |
0.00335% |
33 |
17110140 |
CUBN |
NM_001081.4:c.2931delT |
NP_001072.2:p.His978Ilefs*43 |
8 |
0.00335% |
34 |
17110149 |
CUBN |
NM_001081.4:c.2922delC |
NP_001072.2:p.Phe974Leufs*47 |
8 |
0.00335% |
35 |
17110176 |
CUBN |
NM_001081.4:c.2895delA |
NP_001072.2:p.Gln965Hisfs*5 |
8 |
0.00335% |
36 |
17110195 |
CUBN |
NM_001081.4:c.2876delC |
NP_001072.2:p.Thr959Ilefs*5 |
8 |
0.00335% |
360 |
16877055 |
CUBN |
NM_001081.4:c.10310_10320delTTCATTCACTT |
NP_001072.2:p.Phe3437Trpfs*7 |
1 |
0.000419% |
361 |
16982135 |
CUBN |
NM_001081.4:c.5429_5444del |
NP_001072.2:p.Arg1810Profs*34 |
1 |
0.000419% |