RGD:13480641 Rat Genome Database

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Variant: RGD:13480641 -  Homo sapiens

RGD ID: 13480641
RS ID: rs540198776
ClinVar ID: CV467318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLCN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 17,122,326
GRCh38 17 17,219,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001353230.2:c.1062+7G>A
NM_001353231.2:c.1062+7G>A
NM_144997.7:c.1062+7G>A
LRG_325:g.23177G>A
More... 		07/27/2021 intron variant benign|likely benign AllHighlyPenetrant; BHD syndrome; Birt Hogg Dubé syndrome; Chromosome 17, trisomy 17p11 2; CHROMOSOME 17p11.2 DUPLICATION SYNDROME; Colorectal cancer; Colorectal cancer, somatic; Duplication 17p11 2; Duplication 17p11.2 syndrome; Familial spontaneous pneumothorax; Malignant Colorectal Neoplasm; Nonpapillary renal cell carcinoma; Pneumothorax, primary spontaneous; Potocki-Lupski syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2)); Trisomy 17p11 2
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FLCN
Accession:XM_011523721
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353229
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435540
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435534
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353230
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435537
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435533
Location:INTRON

Gene Symbol:FLCN
Accession:NM_144997
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435536
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024308
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435532
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435535
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523718
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523714
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435539
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353231
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435538
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435542
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024309
Location:INTRON

Gene Symbol:FLCN
Accession:NM_144606
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024305
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435531
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435541
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000528614 CLINVAR
  RCV000615060 CLINVAR
  RCV002490993 CLINVAR
dbSNP (RS) rs540198776 CLINVAR
MedGen C0346010 CLINVAR
  CN169374 CLINVAR
NCBI Gene FLCN CLINVAR
OMIM 114500 CLINVAR
  135150 CLINVAR
  144700 CLINVAR
  173600 CLINVAR
  607273 CLINVAR
  610883 CLINVAR
SNOMED CT 1263460007 CLINVAR