RGD:38495170 Rat Genome Database

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Variant: RGD:38495170 -  Homo sapiens

RGD ID: 38495170
RS ID: rs755253791
ClinVar ID: CV960874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLCN  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 17,124,945
GRCh38 17 17,221,631
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_325t1:c.780-3C>A
NM_001353230.2:c.780-3C>A
NM_001353231.2:c.780-3C>A
NM_144606.7:c.780-3C>A
More... 		10/03/2019 intron variant uncertain significance BHD syndrome; Birt Hogg Dubé syndrome; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLCN
Accession:XM_011523714
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523721
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353230
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353229
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435542
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435540
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523718
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435541
Location:INTRON

Gene Symbol:FLCN
Accession:NM_144606
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024305
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435534
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435535
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435537
Location:INTRON

Gene Symbol:FLCN
Accession:NM_144997
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024308
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435531
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435539
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353231
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435533
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435538
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435532
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024309
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435536
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001241773 CLINVAR
  RCV002411891 CLINVAR
dbSNP (RS) rs755253791 CLINVAR
MedGen C0027672 CLINVAR
  C0346010 CLINVAR
NCBI Gene FLCN CLINVAR
OMIM 135150 CLINVAR
  607273 CLINVAR
SNOMED CT 1263460007 CLINVAR
  699346009 CLINVAR