rs28935197
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
| (G;G) | 6 | Fabry disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101398942 |
| Gene | GLA, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28935197 |
| dbSNP (classic) | rs28935197 |
| ClinGen | rs28935197 |
| ebi | rs28935197 |
| HLI | rs28935197 |
| Exac | rs28935197 |
| Gnomad | rs28935197 |
| Varsome | rs28935197 |
| LitVar | rs28935197 |
| Map | rs28935197 |
| PheGenI | rs28935197 |
| Biobank | rs28935197 |
| 1000 genomes | rs28935197 |
| hgdp | rs28935197 |
| ensembl | rs28935197 |
| geneview | rs28935197 |
| scholar | rs28935197 |
| rs28935197 | |
| pharmgkb | rs28935197 |
| gwascentral | rs28935197 |
| openSNP | rs28935197 |
| 23andMe | rs28935197 |
| SNPshot | rs28935197 |
| SNPdbe | rs28935197 |
| MSV3d | rs28935197 |
| GWAS Ctlg | rs28935197 |
| Max Magnitude | 6 |
aka c.644A>G (p.Asn215Ser or N215S)
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
| ClinVar | |
|---|---|
| Risk | Rs28935197(G;G) |
| Alt | Rs28935197(G;G) |
| Reference | Rs28935197(A;A) |
| Significance | Pathogenic |
| Disease | Fabry disease not provided |
| Variation | info |
| Gene | RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease not provided |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100653930T>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011477.10, RCV000157896.4, |
