rs80338711
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338711(C;C) |
| Make rs80338711(C;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 2953163 |
| Gene | ARSE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338711 |
| dbSNP (classic) | rs80338711 |
| ClinGen | rs80338711 |
| ebi | rs80338711 |
| HLI | rs80338711 |
| Exac | rs80338711 |
| Gnomad | rs80338711 |
| Varsome | rs80338711 |
| LitVar | rs80338711 |
| Map | rs80338711 |
| PheGenI | rs80338711 |
| Biobank | rs80338711 |
| 1000 genomes | rs80338711 |
| hgdp | rs80338711 |
| ensembl | rs80338711 |
| geneview | rs80338711 |
| scholar | rs80338711 |
| rs80338711 | |
| pharmgkb | rs80338711 |
| gwascentral | rs80338711 |
| openSNP | rs80338711 |
| 23andMe | rs80338711 |
| SNPshot | rs80338711 |
| SNPdbe | rs80338711 |
| MSV3d | rs80338711 |
| GWAS Ctlg | rs80338711 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338711(C;C) rs80338711(T;T) |
| Alt | rs80338711(C;C) rs80338711(T;T) |
| Reference | Rs80338711(G;G) |
| Significance | Pathogenic |
| Disease | Chondrodysplasia punctata 1 not specified |
| Variation | info |
| Gene | ARSE |
| CLNDBN | Chondrodysplasia punctata 1, X-linked recessive not specified |
| Reversed | 1 |
| HGVS | NC_000023.10:g.2871204C>A; NC_000023.10:g.2871204C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012281.11, RCV000020092.1, RCV000169650.1, |
[PMID 9863597
] Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
[PMID 18348268] Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
[PMID 2722194] Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.
[PMID 7720070] A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
[PMID 9497243] Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
