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rs137854462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854462(A;T)
Make rs137854462(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48510115
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854462
ebirs137854462
HLIrs137854462
Exacrs137854462
Varsomers137854462
Maprs137854462
PheGenIrs137854462
hapmaprs137854462
1000 genomesrs137854462
hgdprs137854462
ensemblrs137854462
gopubmedrs137854462
geneviewrs137854462
scholarrs137854462
googlers137854462
pharmgkbrs137854462
gwascentralrs137854462
openSNPrs137854462
23andMers137854462
23andMe allrs137854462
SNP Nexus

SNPshotrs137854462
SNPdbers137854462
MSV3drs137854462
GWAS Ctlgrs137854462
Max Magnitude0
OMIM134797
Desc
Variant0010
Relatedalso
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 RCV000017894.23,


[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.