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rs587777892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Charcot-Marie-Tooth disease possibility
Make rs587777892(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position156136008
GeneLMNA
is asnp
is mentioned by
dbSNPrs587777892
ebirs587777892
HLIrs587777892
Exacrs587777892
Varsomers587777892
Maprs587777892
PheGenIrs587777892
hapmaprs587777892
1000 genomesrs587777892
hgdprs587777892
ensemblrs587777892
gopubmedrs587777892
geneviewrs587777892
scholarrs587777892
googlers587777892
pharmgkbrs587777892
gwascentralrs587777892
openSNPrs587777892
23andMers587777892
23andMe allrs587777892
SNP Nexus

SNPshotrs587777892
SNPdbers587777892
MSV3drs587777892
GWAS Ctlgrs587777892
Max Magnitude4
rs587777892 is a heterozygous 1044G>T nucleotide change in the LMNA gene. The nucleotide change predicts an amino acid substitution of methionine to isoleucine at amino acid residue 348 (M3481 or Met348Ile), and it is considered in the article cited below to be a causative (and autosomal dominant) change leading to Charcot-Marie-Tooth disease.

http://phenomena.nationalgeographic.com/2014/08/19/how-an-extreme-athlete-uncovered-her-own-genetic-flaw/

ClinVar
Risk rs587777892(T;T)
Alt rs587777892(T;T)
Reference rs587777892(G;G)
Significance Untested
Disease not provided
Variation info
Gene LMNA
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.156105799G>T
CLNSRC ClinVar
CLNACC RCV000144027.1,