RGD:12913988 Rat Genome Database

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Variant: RGD:12913988 -  Homo sapiens

RGD ID: 12913988
RS ID: rs1131691317
ClinVar ID: CV422039
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 48,780,690
GRCh38 15 48,488,493
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_778t1:c.3083A>G
LRG_778:g.162296A>G
NG_008805.2:g.162296A>G
NC_000015.10:g.48488493T>C
More... 		10/24/2019 missense variant likely pathogenic|uncertain significance Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; none provided; Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:FBN1
Accession:NM_001406716
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Gene Symbol:FBN1
Accession:NM_000138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11780406   PMID:17657824   PMID:25053872   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000494510 CLINVAR
  RCV001248380 CLINVAR
  RCV003444556 CLINVAR
dbSNP (RS) rs1131691317 CLINVAR
MedGen C0024796 CLINVAR
  C3661900 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 134797 CLINVAR
  154700 CLINVAR
SNOMED CT 19346006 CLINVAR