rs28935473
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 |
| Make rs28935473(C;T) |
| Make rs28935473(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154360199 |
| Gene | FLNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28935473 |
| dbSNP (classic) | rs28935473 |
| ClinGen | rs28935473 |
| ebi | rs28935473 |
| HLI | rs28935473 |
| Exac | rs28935473 |
| Gnomad | rs28935473 |
| Varsome | rs28935473 |
| LitVar | rs28935473 |
| Map | rs28935473 |
| PheGenI | rs28935473 |
| Biobank | rs28935473 |
| 1000 genomes | rs28935473 |
| hgdp | rs28935473 |
| ensembl | rs28935473 |
| geneview | rs28935473 |
| scholar | rs28935473 |
| rs28935473 | |
| pharmgkb | rs28935473 |
| gwascentral | rs28935473 |
| openSNP | rs28935473 |
| 23andMe | rs28935473 |
| SNPshot | rs28935473 |
| SNPdbe | rs28935473 |
| MSV3d | rs28935473 |
| GWAS Ctlg | rs28935473 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28935473(T;T) |
| Alt | rs28935473(T;T) |
| Reference | Rs28935473(C;C) |
| Significance | Pathogenic |
| Disease | Melnick-Needles syndrome Oto-palato-digital syndrome |
| Variation | info |
| Gene | FLNA |
| CLNDBN | Melnick-Needles syndrome Oto-palato-digital syndrome, type II |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153588567G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012525.16, RCV000472168.1, |
[PMID 12612583] Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
[PMID 16538226] Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
