rs397514705
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 5.1 | Possible: Phelan-McDermid syndrome (autism-like?) |
| Make rs397514705(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50678666 |
| Gene | SHANK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514705 |
| dbSNP (classic) | rs397514705 |
| ClinGen | rs397514705 |
| ebi | rs397514705 |
| HLI | rs397514705 |
| Exac | rs397514705 |
| Gnomad | rs397514705 |
| Varsome | rs397514705 |
| LitVar | rs397514705 |
| Map | rs397514705 |
| PheGenI | rs397514705 |
| Biobank | rs397514705 |
| 1000 genomes | rs397514705 |
| hgdp | rs397514705 |
| ensembl | rs397514705 |
| geneview | rs397514705 |
| scholar | rs397514705 |
| rs397514705 | |
| pharmgkb | rs397514705 |
| gwascentral | rs397514705 |
| openSNP | rs397514705 |
| 23andMe | rs397514705 |
| SNPshot | rs397514705 |
| SNPdbe | rs397514705 |
| MSV3d | rs397514705 |
| GWAS Ctlg | rs397514705 |
| Max Magnitude | 5.1 |
rs397514705, also known as c.421C>G, p.Pro141Ala and P141A, represents a rare variant in the SHANK3 gene on chromosome 22.
Some variants in the SHANK3 gene have been associated with autism. For rs397514705(G), a 2013 publication reports a 25-year-old African-American woman with developmental delay, seizures, mild facial dysmorphism, and an autism-like disorder consistent with Phelan-McDermid syndrome.[PMID 22892527
]
See also OMIM 606230.0006
| ClinVar | |
|---|---|
| Risk | rs397514705(G;G) |
| Alt | rs397514705(G;G) |
| Reference | Rs397514705(C;C) |
| Significance | Pathogenic |
| Disease | 22q13.3 deletion syndrome |
| Variation | info |
| Gene | SHANK3 |
| CLNDBN | 22q13.3 deletion syndrome |
| Reversed | 0 |
| HGVS | NC_000022.10:g.51117094C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000043655.3, |
