RGD:28882193 Rat Genome Database

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Variant: RGD:28882193 -  Homo sapiens

RGD ID: 28882193
RS ID: rs537909430
ClinVar ID: CV873717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 48,702,862
GRCh38 15 48,410,665
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.48702862A>G
NC_000015.10:g.48410665A>G
NM_000138.5:c.*325T>C
LRG_778:g.240124T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Acromicric skeletal dysplasia; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; Mesodermal dysmorphodystrophy congenital; Thoracic aortic aneurysms and dissections; WM Syndrome

Variant Details
Variant Transcripts
Gene Symbol:FBN1
Accession:NM_001406716
Location:3UTRS;EXON

Gene Symbol:FBN1
Accession:NM_000138
Location:3UTRS;EXON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001118055 CLINVAR
  RCV001118056 CLINVAR
  RCV001119594 CLINVAR
  RCV001119595 CLINVAR
  RCV001119596 CLINVAR
  RCV001119597 CLINVAR
dbSNP (RS) rs537909430 CLINVAR
MedGen C0024796 CLINVAR
  C0265287 CLINVAR
  C0265313 CLINVAR
  C1861456 CLINVAR
  C3541518 CLINVAR
  C4707243 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 102370 CLINVAR
  129600 CLINVAR
  134797 CLINVAR
  154700 CLINVAR
  184900 CLINVAR
SNOMED CT 19346006 CLINVAR
  254090007 CLINVAR