rs797044936
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common/normal |
| (-;G) | 5.1 | Possible: Phelan-McDermid syndrome (autism-like) |
| Make rs797044936(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 50721512 |
| Gene | SHANK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797044936 |
| dbSNP (classic) | rs797044936 |
| ClinGen | rs797044936 |
| ebi | rs797044936 |
| HLI | rs797044936 |
| Exac | rs797044936 |
| Gnomad | rs797044936 |
| Varsome | rs797044936 |
| LitVar | rs797044936 |
| Map | rs797044936 |
| PheGenI | rs797044936 |
| Biobank | rs797044936 |
| 1000 genomes | rs797044936 |
| hgdp | rs797044936 |
| ensembl | rs797044936 |
| geneview | rs797044936 |
| scholar | rs797044936 |
| rs797044936 | |
| pharmgkb | rs797044936 |
| gwascentral | rs797044936 |
| openSNP | rs797044936 |
| 23andMe | rs797044936 |
| SNPshot | rs797044936 |
| SNPdbe | rs797044936 |
| MSV3d | rs797044936 |
| GWAS Ctlg | rs797044936 |
| Max Magnitude | 5.1 |
rs797044936, also known as c.3679dupG or A1227Gfs*69, represents a rare mutation in the SHANK3 gene on chromosome 22.
The minor allele of this SNP has been reported as associated with either autism or the closely related Phelan-McDermid syndrome.[PMID 25188300
]
| ClinVar | |
|---|---|
| Risk | rs797044936(G;G) |
| Alt | rs797044936(G;G) |
| Reference | Rs797044936(-;-) |
| Significance | Pathogenic |
| Disease | 22q13.3 deletion syndrome Inborn genetic diseases not provided |
| Variation | info |
| Gene | SHANK3 |
| CLNDBN | 22q13.3 deletion syndrome Inborn genetic diseases not provided |
| Reversed | 0 |
| HGVS | NC_000022.10:g.51159940dupG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004730.4, RCV000190779.1, RCV000366708.1, |
