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rs80338683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 5 Birt-Hogg-Dube syndrome
(C;C) 0 common in clinvar


Make rs80338683(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position17216395
GeneFLCN, LOC101928660
is asnp
is mentioned by
dbSNPrs80338683
ClinGenrs80338683
ebirs80338683
HLIrs80338683
Exacrs80338683
Varsomers80338683
Maprs80338683
PheGenIrs80338683
hapmaprs80338683
1000 genomesrs80338683
hgdprs80338683
ensemblrs80338683
gopubmedrs80338683
geneviewrs80338683
scholarrs80338683
googlers80338683
pharmgkbrs80338683
gwascentralrs80338683
openSNPrs80338683
23andMers80338683
23andMe allrs80338683
SNP Nexus

SNPshotrs80338683
SNPdbers80338683
MSV3drs80338683
GWAS Ctlgrs80338683
Max Magnitude5

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.

OMIM607273
Desc
Variant0002
Relatedalso
ClinVar
Risk
Alt
Reference Rs80338683(C;C)
Significance Pathogenic
Disease Multiple fibrofolliculomas not provided
Variation info
Gene FLCN LOC101928660
CLNDBN Multiple fibrofolliculomas not provided
Reversed 1
HGVS NC_000017.10:g.17119709delG
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003531.3, RCV000082625.5,


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