rs80338727
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.7 | Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset |
| (A;G) | 3 | Carrier of a citrullinemia/citrin deficiency allele |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a citrullinemia/citrin deficiency allele |
| (T;T) | 5.7 | Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 96121695 |
| Gene | SLC25A13 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338727 |
| dbSNP (classic) | rs80338727 |
| ClinGen | rs80338727 |
| ebi | rs80338727 |
| HLI | rs80338727 |
| Exac | rs80338727 |
| Gnomad | rs80338727 |
| Varsome | rs80338727 |
| LitVar | rs80338727 |
| Map | rs80338727 |
| PheGenI | rs80338727 |
| Biobank | rs80338727 |
| 1000 genomes | rs80338727 |
| hgdp | rs80338727 |
| ensembl | rs80338727 |
| geneview | rs80338727 |
| scholar | rs80338727 |
| rs80338727 | |
| pharmgkb | rs80338727 |
| gwascentral | rs80338727 |
| openSNP | rs80338727 |
| 23andMe | rs80338727 |
| SNPshot | rs80338727 |
| SNPdbe | rs80338727 |
| MSV3d | rs80338727 |
| GWAS Ctlg | rs80338727 |
| Max Magnitude | 5.7 |
| ClinVar | |
|---|---|
| Risk | Rs80338727(A;A) Rs80338727(T;T) |
| Alt | Rs80338727(A;A) Rs80338727(T;T) |
| Reference | Rs80338727(G;G) |
| Significance | Pathogenic |
| Disease | Neonatal intrahepatic cholestasis caused by citrin deficiency |
| Variation | info |
| Gene | SLC25A13 |
| CLNDBN | Neonatal intrahepatic cholestasis caused by citrin deficiency |
| Reversed | 1 |
| HGVS | NC_000007.13:g.95751007C>A; NC_000007.13:g.95751007C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020703.1, RCV000020702.1, |
[PMID 11793471] Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
[PMID 11793471] Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
