RGD:11615338 Rat Genome Database

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Variant: RGD:11615338 -  Homo sapiens

RGD ID: 11615338
RS ID: rs541105214
ClinVar ID: CV343587
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLCN  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 17,136,129
GRCh38 17 17,232,815
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_325t1:c.-141G>T
LRG_325:g.9374G>T
NG_008001.2:g.9374G>T
NC_000017.11:g.17232815C>A
More... 		06/14/2016 5 prime utr variant likely benign adult 1-9 / 1 000 000 BHD syndrome; Birt Hogg Dubé syndrome; Pneumothorax, primary spontaneous
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLCN
Accession:XM_011523718
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_017024309
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435532
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_017024305
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435535
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:NM_144606
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:NM_144997
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:NM_001353230
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:NM_001353229
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435537
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_017024308
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435536
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435538
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435533
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435541
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435534
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435542
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:NM_001353231
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_011523714
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_011523721
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435531
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435540
Location:5UTRS;EXON

Gene Symbol:FLCN
Accession:XM_047435539
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000284665 CLINVAR
  RCV000376999 CLINVAR
dbSNP (RS) rs541105214 CLINVAR
MedGen C0346010 CLINVAR
  C1868193 CLINVAR
NCBI Gene FLCN CLINVAR
OMIM 135150 CLINVAR
  173600 CLINVAR
  607273 CLINVAR
SNOMED CT 1263460007 CLINVAR
  715219001 CLINVAR