Gene GCDH 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: GCDH
Disorder: Glutaric acidaemia 1
Allele Frequency: 0.00251256
Carrier Rate: 0.0050125
Max At-Risk Couples rate: 0.0000251
The table below lists all clinically relevant variants identified in the GCDH gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 126 |
13007089 |
GCDH |
NM_000159.4:c.706T>C |
NP_000150.1:p.Phe236Leu |
3 |
0.001256% |
| 234 |
13007748 |
GCDH |
NM_000159.4:c.877G>A |
NP_000150.1:p.Ala293Thr |
2 |
0.000838% |
| 556 |
13008647 |
GCDH |
NM_000159.4:c.1213A>G |
NP_000150.1:p.Met405Val |
1 |
0.000419% |
