rs193922224
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 6 | Marfan syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Make rs193922224(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 48537698 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922224 |
| dbSNP (classic) | rs193922224 |
| ClinGen | rs193922224 |
| ebi | rs193922224 |
| HLI | rs193922224 |
| Exac | rs193922224 |
| Gnomad | rs193922224 |
| Varsome | rs193922224 |
| LitVar | rs193922224 |
| Map | rs193922224 |
| PheGenI | rs193922224 |
| Biobank | rs193922224 |
| 1000 genomes | rs193922224 |
| hgdp | rs193922224 |
| ensembl | rs193922224 |
| geneview | rs193922224 |
| scholar | rs193922224 |
| rs193922224 | |
| pharmgkb | rs193922224 |
| gwascentral | rs193922224 |
| openSNP | rs193922224 |
| 23andMe | rs193922224 |
| SNPshot | rs193922224 |
| SNPdbe | rs193922224 |
| MSV3d | rs193922224 |
| GWAS Ctlg | rs193922224 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs193922224(G;G) |
| Alt | rs193922224(G;G) |
| Reference | Rs193922224(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48829895A>C |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029763.1, |
[PMID 7977366
] A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
[PMID 8136837] Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
[PMID 8791520] Fibrillln mutations in Marfan syndrome and related phenotypes.
[PMID 11143906] Marfan syndrome and fibrillin disorders.
[PMID 11826022] Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
[PMID 17568394] Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
