Gene DYNC2H1 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: DYNC2H1
Disorder: Asphyxiating thoracic dystrophy
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the DYNC2H1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 171 |
103124076 |
DYNC2H1 |
NM_001080463.2:c.10130delT |
NP_001073932.1:p.Leu3377Cysfs*35 |
2 |
0.000838% |
| 365 |
102991434 |
DYNC2H1 |
NM_001080463.2:c.1151C>T |
NP_001073932.1:p.Ala384Val |
1 |
0.000419% |
| 366 |
103029645 |
DYNC2H1 |
NM_001080463.2:c.4267C>T |
NP_001073932.1:p.Arg1423Cys |
1 |
0.000419% |
| 367 |
103048362 |
DYNC2H1 |
NM_001080463.2:c.5955dupA |
NP_001073932.1:p.Ser1986Ilefs*13 |
1 |
0.000419% |
