rs80338720
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5.7 | Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset |
| (-;GTAT) | 3 | Carrier of a citrullinemia/citrin deficiency allele |
| (-;TATG) | Carrier of a citrullinemia/citrin deficiency allele | |
| (GTAT;GTAT) | 0 | common in complete genomics |
| (TATG;TATG) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 96189373 |
| Gene | SLC25A13 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338720 |
| dbSNP (classic) | rs80338720 |
| ClinGen | rs80338720 |
| ebi | rs80338720 |
| HLI | rs80338720 |
| Exac | rs80338720 |
| Gnomad | rs80338720 |
| Varsome | rs80338720 |
| LitVar | rs80338720 |
| Map | rs80338720 |
| PheGenI | rs80338720 |
| Biobank | rs80338720 |
| 1000 genomes | rs80338720 |
| hgdp | rs80338720 |
| ensembl | rs80338720 |
| geneview | rs80338720 |
| scholar | rs80338720 |
| rs80338720 | |
| pharmgkb | rs80338720 |
| gwascentral | rs80338720 |
| openSNP | rs80338720 |
| 23andMe | rs80338720 |
| SNPshot | rs80338720 |
| SNPdbe | rs80338720 |
| MSV3d | rs80338720 |
| GWAS Ctlg | rs80338720 |
| Merged from | Rs569808959 |
| Max Magnitude | 5.7 |
| ClinVar | |
|---|---|
| Risk | Rs80338720(TATG;TATG) Rs80338720(-;-) |
| Alt | Rs80338720(TATG;TATG) Rs80338720(-;-) |
| Reference | Rs80338720(GTAT;GTAT) |
| Significance | Pathogenic |
| Disease | Neonatal intrahepatic cholestasis caused by citrin deficiency Citrin deficiency |
| Variation | info |
| Gene | SLC25A13 |
| CLNDBN | Neonatal intrahepatic cholestasis caused by citrin deficiency Citrin deficiency |
| Reversed | 1 |
| HGVS | NC_000007.13:g.95818684_95818687delCATA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006368.4, RCV000344746.1, |
[PMID 10369257] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
[PMID 11281457] Neonatal presentation of adult-onset type II citrullinemia.
[PMID 12424587] Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.
