RGD:15153238 Rat Genome Database

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Variant: RGD:15153238 -  Homo sapiens

RGD ID: 15153238
RS ID: rs1478813051
ClinVar ID: CV754498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 48,729,583
GRCh38 15 48,437,386
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.9:g.48729583C>T
NM_000138.5:c.6315G>A
NG_008805.2:g.213403G>A
NC_000015.10:g.48437386C>T
More... 		12/14/2018 synonymous variant likely benign|uncertain significance 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_001406716
Location:EXON

Gene Symbol:FBN1
Accession:NM_000138
Location:EXON

Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001178421 CLINVAR
  RCV001334257 CLINVAR
  RCV002065998 CLINVAR
dbSNP (RS) rs1478813051 CLINVAR
MedGen C0024796 CLINVAR
  C4707243 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 134797 CLINVAR
  154700 CLINVAR
SNOMED CT 19346006 CLINVAR