rs61742739
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 2 | carrier of a possible allele for renal glycosuria |
| (G;G) | 2.8 | renal glycosuria possible, but see discussion |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 31490477 |
| Gene | C16orf58, SLC5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61742739 |
| dbSNP (classic) | rs61742739 |
| ClinGen | rs61742739 |
| ebi | rs61742739 |
| HLI | rs61742739 |
| Exac | rs61742739 |
| Gnomad | rs61742739 |
| Varsome | rs61742739 |
| LitVar | rs61742739 |
| Map | rs61742739 |
| PheGenI | rs61742739 |
| Biobank | rs61742739 |
| 1000 genomes | rs61742739 |
| hgdp | rs61742739 |
| ensembl | rs61742739 |
| geneview | rs61742739 |
| scholar | rs61742739 |
| rs61742739 | |
| pharmgkb | rs61742739 |
| gwascentral | rs61742739 |
| openSNP | rs61742739 |
| 23andMe | rs61742739 |
| SNPshot | rs61742739 |
| SNPdbe | rs61742739 |
| MSV3d | rs61742739 |
| GWAS Ctlg | rs61742739 |
| GMAF | 0.003673 |
| Max Magnitude | 2.8 |
rs61742739, also known as c.1961A>G, p.Asn654Ser and N654S, represents a rare variant in the SLC5A2 gene on chromosome 16.
Mutations in the SLC5A2 gene are reported to cause a familial form of renal glycosuria, with both dominant and recessive forms of inheritance reported. The rs61742739(G) allele was reported along with another SLC5A2 mutation in a patient with glycosuria, implying it is recessive, which was also consistent in that the patient's parents, one of whom was heterozygous for rs61742739(G), were not reported as having glycosuria.[PMID 14614622]
However, GET-Evidence states that some authors believe this variant is nonpathogenic. The literature cited is consistent with this variant being either benign or recessive (and possibly of variable penetrance).
| ClinVar | |
|---|---|
| Risk | Rs61742739(G;G) |
| Alt | Rs61742739(G;G) |
| Reference | Rs61742739(A;A) |
| Significance | Pathogenic |
| Disease | Familial renal glucosuria |
| Variation | info |
| Gene | C16orf58 SLC5A2 |
| CLNDBN | Familial renal glucosuria |
| Reversed | 0 |
| HGVS | NC_000016.9:g.31501798A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013768.25, |
