rs386833794
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CTTT;CTTT) | 0 | common in clinvar |
| Make rs386833794(-;-) |
| Make rs386833794(-;CTTT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 22775531 |
| Gene | SLC7A7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833794 |
| dbSNP (classic) | rs386833794 |
| ClinGen | rs386833794 |
| ebi | rs386833794 |
| HLI | rs386833794 |
| Exac | rs386833794 |
| Gnomad | rs386833794 |
| Varsome | rs386833794 |
| LitVar | rs386833794 |
| Map | rs386833794 |
| PheGenI | rs386833794 |
| Biobank | rs386833794 |
| 1000 genomes | rs386833794 |
| hgdp | rs386833794 |
| ensembl | rs386833794 |
| geneview | rs386833794 |
| scholar | rs386833794 |
| rs386833794 | |
| pharmgkb | rs386833794 |
| gwascentral | rs386833794 |
| openSNP | rs386833794 |
| 23andMe | rs386833794 |
| SNPshot | rs386833794 |
| SNPdbe | rs386833794 |
| MSV3d | rs386833794 |
| GWAS Ctlg | rs386833794 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833794(-;-) |
| Alt | rs386833794(-;-) |
| Reference | Rs386833794(CTTT;CTTT) |
| Significance | Probable-Pathogenic |
| Disease | Lysinuric protein intolerance |
| Variation | info |
| Gene | SLC7A7 |
| CLNDBN | Lysinuric protein intolerance |
| Reversed | 1 |
| HGVS | NC_000014.8:g.23244740_23244743delAAAG |
| CLNSRC | ClinVar |
| CLNACC | RCV000049759.1, |
[PMID 10080182] Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
[PMID 10655553] Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
[PMID 12402335] Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
