rs63750743
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
| (T;T) | 5 | arrhythmogenic right ventricular dysplasia susceptibility |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 14141665 |
| Gene | TMEM43 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750743 |
| dbSNP (classic) | rs63750743 |
| ClinGen | rs63750743 |
| ebi | rs63750743 |
| HLI | rs63750743 |
| Exac | rs63750743 |
| Gnomad | rs63750743 |
| Varsome | rs63750743 |
| LitVar | rs63750743 |
| Map | rs63750743 |
| PheGenI | rs63750743 |
| Biobank | rs63750743 |
| 1000 genomes | rs63750743 |
| hgdp | rs63750743 |
| ensembl | rs63750743 |
| geneview | rs63750743 |
| scholar | rs63750743 |
| rs63750743 | |
| pharmgkb | rs63750743 |
| gwascentral | rs63750743 |
| openSNP | rs63750743 |
| 23andMe | rs63750743 |
| SNPshot | rs63750743 |
| SNPdbe | rs63750743 |
| MSV3d | rs63750743 |
| GWAS Ctlg | rs63750743 |
| Max Magnitude | 6.7 |
rs63750743, also known as Ser358Leu or S358L, is a SNP in the TMEM43 gene on chromosome 3.
Carrying a single rs63750743(T) allele is reported to lead, sooner or later, to arrhythmogenic right ventricular dysplasia type 5 (ARVD5).[PMID 18313022
]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]
[PMID 29997392] Without naming the company that produced the data, this paper cites one example of a false positive finding for this SNP in direct-to-consumer genotyping data.
| ClinVar | |
|---|---|
| Risk | Rs63750743(T;T) |
| Alt | Rs63750743(T;T) |
| Reference | Rs63750743(C;C) |
| Significance | Pathogenic |
| Disease | Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not provided |
| Variation | info |
| Gene | TMEM43 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 5 Arrhythmogenic right ventricular cardiomyopathy not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.14183165C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000770.6, RCV000039375.3, RCV000183944.3, |
[PMID 18313022] Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
