rs137854462

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
google	rs137854462
pharmgkb	rs137854462
gwascentral	rs137854462
openSNP	rs137854462
23andMe	rs137854462
SNPshot	rs137854462
SNPdbe	rs137854462
MSV3d	rs137854462
GWAS Ctlg	rs137854462

Max Magnitude

6

OMIM	134797
Desc
Variant	0010
Related	also

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.