RGD:38474548 Rat Genome Database

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Variant: RGD:38474548 -  Homo sapiens

RGD ID: 38474548
RS ID: rs2046865948
ClinVar ID: CV941160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLCN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 17,118,294
GRCh38 17 17,214,980
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_325t1:c.1538+5G>C
NM_001353230.2:c.1538+5G>C
NM_001353231.2:c.1538+5G>C
NM_144997.7:c.1538+5G>C
More... 		07/03/2019 intron variant uncertain significance BHD syndrome; Birt Hogg Dubé syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLCN
Accession:XM_011523718
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353231
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435531
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435537
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024308
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435538
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435536
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435542
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435534
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435539
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024305
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353230
Location:INTRON

Gene Symbol:FLCN
Accession:NM_144997
Location:INTRON

Gene Symbol:FLCN
Accession:NM_144606
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435532
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523721
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353229
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435541
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435540
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435535
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523714
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435533
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024309
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001214791 CLINVAR
dbSNP (RS) rs2046865948 CLINVAR
MedGen C0346010 CLINVAR
NCBI Gene FLCN CLINVAR
OMIM 135150 CLINVAR
  607273 CLINVAR
SNOMED CT 1263460007 CLINVAR