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rs80338682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 5 Birt-Hogg-Dube syndrome
(CAG;CAG) 0 common in clinvar
Make rs80338682(-;-)
Make rs80338682(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position17216394
GeneFLCN
is asnp
is mentioned by
dbSNPrs80338682
ebirs80338682
HLIrs80338682
Exacrs80338682
Varsomers80338682
Maprs80338682
PheGenIrs80338682
hapmaprs80338682
1000 genomesrs80338682
hgdprs80338682
ensemblrs80338682
gopubmedrs80338682
geneviewrs80338682
scholarrs80338682
googlers80338682
pharmgkbrs80338682
gwascentralrs80338682
openSNPrs80338682
23andMers80338682
23andMe allrs80338682
SNP Nexus

SNPshotrs80338682
SNPdbers80338682
MSV3drs80338682
GWAS Ctlgrs80338682
Max Magnitude5

rs80338682, also known as c.1285dupC and p.His429Profs, represents a rare mutation in the FLCN gene on chromosome 17.

The rare alternative allele has been linked to Birt-Hogg-Dube syndrome.

OMIM607273
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338682(C;C)
Alt rs80338682(C;C)
Reference rs80338682(CAG;CAG)
Significance Pathogenic
Disease Multiple fibrofolliculomas Pneumothorax not provided Hereditary cancer-predisposing syndrome
Variation info
Gene FLCN LOC101928660
CLNDBN Multiple fibrofolliculomas Pneumothorax, primary spontaneous not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.17119709dupG
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003529.3, RCV000003530.2, RCV000082626.3, RCV000130568.2,


[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 12471204OA-icon.png] Clinical and genetic studies of Birt-Hogg-Dube syndrome.


[PMID 15852235OA-icon.png] Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome.


[PMID 17496196OA-icon.png] Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.


[PMID 18505456] Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.