AVDB

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%