rs137854462
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | Marfan syndrome mutation |
Make rs137854462(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48510115 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs137854462 |
dbSNP (classic) | rs137854462 |
ClinGen | rs137854462 |
ebi | rs137854462 |
HLI | rs137854462 |
Exac | rs137854462 |
Gnomad | rs137854462 |
Varsome | rs137854462 |
LitVar | rs137854462 |
Map | rs137854462 |
PheGenI | rs137854462 |
Biobank | rs137854462 |
1000 genomes | rs137854462 |
hgdp | rs137854462 |
ensembl | rs137854462 |
geneview | rs137854462 |
scholar | rs137854462 |
rs137854462 | |
pharmgkb | rs137854462 |
gwascentral | rs137854462 |
openSNP | rs137854462 |
23andMe | rs137854462 |
SNPshot | rs137854462 |
SNPdbe | rs137854462 |
MSV3d | rs137854462 |
GWAS Ctlg | rs137854462 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs137854462(T;T) |
Alt | rs137854462(T;T) |
Reference | Rs137854462(A;A) |
Significance | Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48802312T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017894.24, |
[PMID 118807] [Paroxysmal paresis associated with brain stem symptomatology - a new clinical entity?].
[PMID 8406497] Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
[PMID 10766875] Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.
[PMID 11068200] Fibrillin: from domain structure to supramolecular assembly.
[PMID 11706995] The molecular pathogenesis of the Marfan syndrome.
[PMID 15161917] Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.