RGD:8691049 Rat Genome Database

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Variant: RGD:8691049 -  Homo sapiens

RGD ID: 8691049
RS ID: rs11853943
ClinVar ID: CV141008
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 48,779,402
GRCh38 15 48,487,205
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
NG_008805.2:g.163584G>A
NC_000015.10:g.48487205C>T
NC_000015.9:g.48779402C>T
LRG_778t1:c.3464-5G>A
More... 		03/09/2018 intron variant benign all ages|neonatal 1-5 / 10 000|<1 / 1 000 000 Acromicric skeletal dysplasia; AllHighlyPenetrant; Connective tissue disease; Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; Mesodermal dysmorphodystrophy congenital; none provided; Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections; WM Syndrome

Variant Details
Variant Transcripts
Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Gene Symbol:FBN1
Accession:NM_000138
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406716
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000154234 CLINVAR
  RCV000244497 CLINVAR
  RCV000272132 CLINVAR
  RCV000275773 CLINVAR
  RCV000329551 CLINVAR
  RCV000331777 CLINVAR
  RCV000333151 CLINVAR
  RCV000367794 CLINVAR
  RCV001520055 CLINVAR
  RCV001812031 CLINVAR
  RCV002277244 CLINVAR
dbSNP (RS) rs11853943 CLINVAR
MedGen C0009782 CLINVAR
  C0024796 CLINVAR
  C0265287 CLINVAR
  C0265313 CLINVAR
  C1861456 CLINVAR
  C3489726 CLINVAR
  C3541518 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 102370 CLINVAR
  129600 CLINVAR
  134797 CLINVAR
  154700 CLINVAR
  184900 CLINVAR
SNOMED CT 19346006 CLINVAR
  254090007 CLINVAR
  28557005 CLINVAR