Gene KIF1C 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: KIF1C
Disorder: Cerebellar ataxia
Allele Frequency: 0.0041876
Carrier Rate: 0.00834014
Max At-Risk Couples rate: 0.0000696
The table below lists all clinically relevant variants identified in the KIF1C gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 71 |
4923851 |
KIF1C |
NM_006612.6:c.1816delG |
NP_006603.2:p.Glu606Asnfs*34 |
5 |
0.002094% |
| 72 |
4923885 |
KIF1C |
NM_006612.6:c.1850delC |
NP_006603.2:p.Pro617Argfs*23 |
5 |
0.002094% |
