RGD:14691435 Rat Genome Database

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Variant: RGD:14691435 -  Homo sapiens

RGD ID: 14691435
RS ID: rs534417939
ClinVar ID: CV619580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 48,719,758
GRCh38 15 48,427,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.48427561A>C
NC_000015.9:g.48719758A>C
LRG_778t1:c.7204+6T>G
LRG_778:g.223228T>G
More... 		11/21/2018 intron variant likely benign Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; 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_001406717
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Gene Symbol:FBN1
Accession:NM_000138
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406716
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000771284 CLINVAR
  RCV000866303 CLINVAR
dbSNP (RS) rs534417939 CLINVAR
MedGen C0024796 CLINVAR
  C4707243 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 134797 CLINVAR
  154700 CLINVAR
SNOMED CT 19346006 CLINVAR