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rs113812345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Marfan syndrome mutation
(T;T) 6 Marfan syndrome mutation
ReferenceGRCh38 38.1/141
Chromosome15
Position48513591
GeneFBN1
is asnp
is mentioned by
dbSNPrs113812345
ebirs113812345
HLIrs113812345
Exacrs113812345
Varsomers113812345
Maprs113812345
PheGenIrs113812345
hapmaprs113812345
1000 genomesrs113812345
hgdprs113812345
ensemblrs113812345
gopubmedrs113812345
geneviewrs113812345
scholarrs113812345
googlers113812345
pharmgkbrs113812345
gwascentralrs113812345
openSNPrs113812345
23andMers113812345
23andMe allrs113812345
SNP Nexus

SNPshotrs113812345
SNPdbers113812345
MSV3drs113812345
GWAS Ctlgrs113812345
Max Magnitude6

rs113812345, also known as c.1546C>T, p.Arg516Ter and R516X, represents a mutation in the FBN1 gene on chromosome 15.

The rare (T) allele is considered pathogenic for Marfan syndrome in ClinVar by multiple sources.

rs113812345 appears to be tested under the name i5043856 by 23andMe on some of their chips.


ClinVar
Risk rs113812345(T;T)
Alt rs113812345(T;T)
Reference rs113812345(C;C)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48805788G>A
CLNSRC ClinVar
CLNACC RCV000035118.2, RCV000181420.1,