rs80338683
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 5 | Birt-Hogg-Dube syndrome |
| (C;C) | 0 | common in clinvar |
| Make rs80338683(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 17216395 |
| Gene | FLCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338683 |
| dbSNP (classic) | rs80338683 |
| ClinGen | rs80338683 |
| ebi | rs80338683 |
| HLI | rs80338683 |
| Exac | rs80338683 |
| Gnomad | rs80338683 |
| Varsome | rs80338683 |
| LitVar | rs80338683 |
| Map | rs80338683 |
| PheGenI | rs80338683 |
| Biobank | rs80338683 |
| 1000 genomes | rs80338683 |
| hgdp | rs80338683 |
| ensembl | rs80338683 |
| geneview | rs80338683 |
| scholar | rs80338683 |
| rs80338683 | |
| pharmgkb | rs80338683 |
| gwascentral | rs80338683 |
| openSNP | rs80338683 |
| 23andMe | rs80338683 |
| SNPshot | rs80338683 |
| SNPdbe | rs80338683 |
| MSV3d | rs80338683 |
| GWAS Ctlg | rs80338683 |
| Max Magnitude | 5 |
rs80338683, also known as c.1285delC and p.His429Thrfs, represents a rare mutation in the FLCN gene on chromosome 17.
The rare alternative allele has been linked to Birt-Hogg-Dube syndrome.
| ClinVar | |
|---|---|
| Risk | rs80338683(-;-) |
| Alt | rs80338683(-;-) |
| Reference | Rs80338683(C;C) |
| Significance | Pathogenic |
| Disease | Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | FLCN LOC101928660 |
| CLNDBN | Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.17119709delG |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000003531.3, RCV000082625.6, RCV000492709.1, |
[PMID 12204536] Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome.
[PMID 15852235
] Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome.
