Gene PRG4 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: PRG4
Disorder: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the PRG4 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 321 |
186269307 |
PRG4 |
NM_005807.6:c.161delT |
NP_005798.3:p.Met54Argfs*96 |
1 |
0.000419% |
| 322 |
186269344 |
PRG4 |
NM_005807.6:c.199+1delG |
|
1 |
0.000419% |
| 323 |
186273300 |
PRG4 |
NM_005807.6:c.379_380insGGAGCATCTG |
NP_005798.3:p.Gln127Argfs*4 |
1 |
0.000419% |
| 324 |
186278091 |
PRG4 |
NM_005807.6:c.3254_3260dupCCAAACT |
NP_005798.3:p.Val1088Glnfs*4 |
1 |
0.000419% |
