Gene PANK2 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: PANK2
Disorder: Neurodegeneration with brain iron accumulation 1
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 PANK2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 253 |
3888768 |
PANK2 |
NM_153638.4:c.828_829delTG |
NP_705902.2:p.Cys276Trpfs*15 |
2 |
0.000838% |
| 254 |
3897603 |
PANK2 |
NM_153638.4:c.1442G>C |
p.Arg481Pro |
2 |
0.000838% |
