Gene SLC37A4 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: SLC37A4
Disorder: Glycogen storage disease 1b
Allele Frequency: 0.000837521
Carrier Rate: 0.00167364
Max At-Risk Couples rate: 0.0000028
The table below lists all clinically relevant variants identified in the SLC37A4 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 374 |
118898981 |
SLC37A4 |
NM_001164277.2:c.304dupG |
NP_001157749.1:p.Val102Glyfs*9 |
1 |
0.000419% |
| 375 |
118899110 |
SLC37A4 |
NM_001164277.2:c.169_175delTCGGCAG |
NP_001157749.1:p.Ser57Leufs*16 |
1 |
0.000419% |
