rs111671429

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6	Marfan syndrome mutation

Make rs111671429(C;T)

Make rs111671429(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48596311

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs111671429
dbSNP (classic)	rs111671429
ClinGen	rs111671429
ebi	rs111671429
HLI	rs111671429
Exac	rs111671429
Gnomad	rs111671429
Varsome	rs111671429
LitVar	rs111671429
Map	rs111671429
PheGenI	rs111671429
Biobank	rs111671429
1000 genomes	rs111671429
hgdp	rs111671429
ensembl	rs111671429
geneview	rs111671429
scholar	rs111671429
google	rs111671429
pharmgkb	rs111671429
gwascentral	rs111671429
openSNP	rs111671429
23andMe	rs111671429
SNPshot	rs111671429
SNPdbe	rs111671429
MSV3d	rs111671429
GWAS Ctlg	rs111671429

GMAF

0.0004591

Max Magnitude

6

aka c.510C>G (p.Tyr170Ter or Y170X); as well as c.510C>T (p.Tyr170=); the former is considered likely to be pathogenic for marfan syndrome, while the latter is likely to be benign according to ClinVar

ClinVar
Risk	rs111671429(G;G) rs111671429(T;T)
Alt	rs111671429(G;G) rs111671429(T;T)
Reference	Rs111671429(C;C)
Significance	Other
Disease	Marfan syndrome not specified Geleophysic dysplasia Weill-Marchesani syndrome MASS syndrome Thoracic aortic aneurysm and aortic dissection Ectopia lentis Stiff skin syndrome Acromicric dysplasia not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified Geleophysic dysplasia Weill-Marchesani syndrome MASS syndrome Thoracic aortic aneurysm and aortic dissection Ectopia lentis Stiff skin syndrome Acromicric dysplasia not provided
Reversed	1
HGVS	NC_000015.9:g.48888508G>A; NC_000015.9:g.48888508G>C
CLNSRC	ClinVar GeneDx LabCorp
CLNACC	RCV000029748.2, RCV000035220.5, RCV000277063.1, RCV000307637.1, RCV000308793.1, RCV000311281.1, RCV000368323.1, RCV000369297.1, RCV000393923.1, RCV000456461.1, RCV000029747.1, RCV000492866.1,

[PMID 14695540] Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

[PMID 16342915] Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

[PMID 10647894] Molecular analysis of eight mutations in FBN1.

[PMID 12161601] Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.