rs104894845
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4 | Familial hypertrophic cardiomyopathy possible; but significance is uncertain |
| (G;G) | 0 | common in clinvar |
| Make rs104894845(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101401752 |
| Gene | GLA, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894845 |
| dbSNP (classic) | rs104894845 |
| ClinGen | rs104894845 |
| ebi | rs104894845 |
| HLI | rs104894845 |
| Exac | rs104894845 |
| Gnomad | rs104894845 |
| Varsome | rs104894845 |
| LitVar | rs104894845 |
| Map | rs104894845 |
| PheGenI | rs104894845 |
| Biobank | rs104894845 |
| 1000 genomes | rs104894845 |
| hgdp | rs104894845 |
| ensembl | rs104894845 |
| geneview | rs104894845 |
| scholar | rs104894845 |
| rs104894845 | |
| pharmgkb | rs104894845 |
| gwascentral | rs104894845 |
| openSNP | rs104894845 |
| 23andMe | rs104894845 |
| SNPshot | rs104894845 |
| SNPdbe | rs104894845 |
| MSV3d | rs104894845 |
| GWAS Ctlg | rs104894845 |
| Max Magnitude | 4 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
However, multiple submitters also indicate that the significance of this variant is really unclear at this time. The following statement by Invitae in ClinVar summarizes the situation very clearly: "In summary, this variant has been seen in many patients described with a milder Fabry disease phenotype and causes reduced alpha-galactosidase enzyme activity. However, this variant occurs at an appreciable frequency in population databases, asymptomatic adult relatives have been identified, and most patient do not have evidence of storage on tissue biopsy. For these reasons, this change has been classified as a Variant of Uncertain Significance."
| ClinVar | |
|---|---|
| Risk | rs104894845(A;A) rs104894845(C;C) |
| Alt | rs104894845(A;A) rs104894845(C;C) |
| Reference | Rs104894845(G;G) |
| Significance | Other |
| Disease | Fabry disease not provided Cardiomyopathy not specified |
| Variation | info |
| Gene | RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease not provided Cardiomyopathy not specified |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100656740C>G; NC_000023.10:g.100656740C>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011516.6, RCV000157890.2, RCV000011495.10, RCV000157242.2, RCV000211872.1, RCV000224064.1, |
