Gene SLC34A1 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: SLC34A1
Disorder: ?Fanconi renotubular syndrome 2
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the SLC34A1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 273 |
176814874 |
SLC34A1 |
NM_003052.4:c.644G>A |
p.Arg215Gln |
2 |
0.000838% |
| 703 |
176812808 |
SLC34A1 |
NM_003052.5:c.66delT |
NP_003043.3:p.His22Glnfs*2 |
1 |
0.000419% |
