rs386834043
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AGAAACCTGAGGCTGTCCCAATGGCATGC;AGAAACCTGAGGCTGTCCCAATGGCATGC) | 0 | common in clinvar |
| Make rs386834043(-;-) |
| Make rs386834043(-;CAGAAACCTGAGGCTGTCCCAATGGCATG) |
| Make rs386834043(CAGAAACCTGAGGCTGTCCCAATGGCATG;CAGAAACCTGAGGCTGTCCCAATGGCATG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 58206554 |
| Gene | MKS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386834043 |
| dbSNP (classic) | rs386834043 |
| ClinGen | rs386834043 |
| ebi | rs386834043 |
| HLI | rs386834043 |
| Exac | rs386834043 |
| Gnomad | rs386834043 |
| Varsome | rs386834043 |
| LitVar | rs386834043 |
| Map | rs386834043 |
| PheGenI | rs386834043 |
| Biobank | rs386834043 |
| 1000 genomes | rs386834043 |
| hgdp | rs386834043 |
| ensembl | rs386834043 |
| geneview | rs386834043 |
| scholar | rs386834043 |
| rs386834043 | |
| pharmgkb | rs386834043 |
| gwascentral | rs386834043 |
| openSNP | rs386834043 |
| 23andMe | rs386834043 |
| SNPshot | rs386834043 |
| SNPdbe | rs386834043 |
| MSV3d | rs386834043 |
| GWAS Ctlg | rs386834043 |
| Merged from | Rs749737706 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs386834043(AGAAACCTGAGGCTGTCCCAATGGCATGC;AGAAACCTGAGGCTGTCCCAATGGCATGC) rs386834043(-;-) |
| Alt | Rs386834043(AGAAACCTGAGGCTGTCCCAATGGCATGC;AGAAACCTGAGGCTGTCCCAATGGCATGC) rs386834043(-;-) |
| Reference | rs386834043(CAGAAACCTGAGGCTGTCCCAATGGCATG;CAGAAACCTGAGGCTGTCCCAATGGCATG) |
| Significance | Other |
| Disease | Joubert syndrome Meckel-Gruber syndrome not provided |
| Variation | info |
| Gene | MKS1 |
| CLNDBN | Joubert syndrome Meckel-Gruber syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.56283914_56283942del29 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000168467.2, RCV000273342.1, RCV000491550.1, |
[PMID 16415886] MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
[PMID 17377820] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
[PMID 17437276] Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
[PMID 17935508] A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.
