rs121964852
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Nemaline Myopathy 1 |
| (A;G) | 2 | Nemaline Myopathy 1 |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 154172971 |
| Gene | TPM3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121964852 |
| dbSNP (classic) | rs121964852 |
| ClinGen | rs121964852 |
| ebi | rs121964852 |
| HLI | rs121964852 |
| Exac | rs121964852 |
| Gnomad | rs121964852 |
| Varsome | rs121964852 |
| LitVar | rs121964852 |
| Map | rs121964852 |
| PheGenI | rs121964852 |
| Biobank | rs121964852 |
| 1000 genomes | rs121964852 |
| hgdp | rs121964852 |
| ensembl | rs121964852 |
| geneview | rs121964852 |
| scholar | rs121964852 |
| rs121964852 | |
| pharmgkb | rs121964852 |
| gwascentral | rs121964852 |
| openSNP | rs121964852 |
| 23andMe | rs121964852 |
| SNPshot | rs121964852 |
| SNPdbe | rs121964852 |
| MSV3d | rs121964852 |
| GWAS Ctlg | rs121964852 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | Rs121964852(A;A) |
| Alt | Rs121964852(A;A) |
| Reference | Rs121964852(G;G) |
| Significance | Pathogenic |
| Disease | Nemaline myopathy 1 Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided |
| Variation | info |
| Gene | TPM3 |
| CLNDBN | Nemaline myopathy 1 Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.154145447C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013263.27, RCV000013264.25, RCV000054415.18, RCV000128701.1, |
[PMID 12467750] De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.
[PMID 17376686] A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
[PMID 18300303] Mutations in TPM3 are a common cause of congenital fiber type disproportion.
[PMID 19553118] A TPM3 mutation causing cap myopathy.
[PMID 19953533
] Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
[PMID 20951040] Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.
