rs121434254
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an APECED mutation |
| Make rs121434254(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 44289773 |
| Gene | AIRE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434254 |
| dbSNP (classic) | rs121434254 |
| ClinGen | rs121434254 |
| ebi | rs121434254 |
| HLI | rs121434254 |
| Exac | rs121434254 |
| Gnomad | rs121434254 |
| Varsome | rs121434254 |
| LitVar | rs121434254 |
| Map | rs121434254 |
| PheGenI | rs121434254 |
| Biobank | rs121434254 |
| 1000 genomes | rs121434254 |
| hgdp | rs121434254 |
| ensembl | rs121434254 |
| geneview | rs121434254 |
| scholar | rs121434254 |
| rs121434254 | |
| pharmgkb | rs121434254 |
| gwascentral | rs121434254 |
| openSNP | rs121434254 |
| 23andMe | rs121434254 |
| SNPshot | rs121434254 |
| SNPdbe | rs121434254 |
| MSV3d | rs121434254 |
| GWAS Ctlg | rs121434254 |
| Max Magnitude | 3 |
aka c.769C>T (p.Arg257Ter or R257X)
In most populations studied, the R257X mutation is the most frequent among patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED), according in publications cited by OMIM. Usually the R257X mutation is found as a compound heterozygote with another mutation in the AIRE gene.
| ClinVar | |
|---|---|
| Risk | rs121434254(A;A) rs121434254(T;T) |
| Alt | rs121434254(A;A) rs121434254(T;T) |
| Reference | Rs121434254(C;C) |
| Significance | Pathogenic |
| Disease | Polyglandular autoimmune syndrome not provided |
| Variation | info |
| Gene | AIRE |
| CLNDBN | Polyglandular autoimmune syndrome, type 1 not provided |
| Reversed | 0 |
| HGVS | NC_000021.8:g.45709656C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000179294.2, RCV000378770.2, |
